{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:23:25Z","timestamp":1791397405345,"version":"4.3.3"},"reference-count":219,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI19\/00303"],"award-info":[{"award-number":["PI19\/00303"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["PROMETEU\/2018\/135"],"award-info":[{"award-number":["PROMETEU\/2018\/135"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the \u201cUsher interactome\u201d. In the organ of Corti, the USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia. In the retina, the USH protein network is principally located in the periciliary region of the photoreceptors, and plays an important role in the maintenance of the periciliary structure and the trafficking of molecules between the inner and the outer segments of photoreceptors. Even though some genes are clearly involved in the syndrome, others are controversial. Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild comorbidities. In this paper, we review the genetics of Usher syndrome and the spectrum of mutations in USH genes. The aim is to identify possible mutation associations with the disease and provide an updated genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.3390\/ijms22136723","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T11:28:41Z","timestamp":1624447721000},"page":"6723","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":103,"title":["Usher Syndrome: Genetics of a Human Ciliopathy"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4209-7248","authenticated-orcid":false,"given":"Carla","family":"Fuster-Garc\u00eda","sequence":"first","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"},{"name":"Biomedical Research Network for Rare Diseases, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"Garc\u00eda-Boh\u00f3rquez","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Rodr\u00edguez-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Aller","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"},{"name":"Biomedical Research Network for Rare Diseases, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"},{"name":"Genetics Unit, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Jaijo","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"},{"name":"Biomedical Research Network for Rare Diseases, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"},{"name":"Genetics Unit, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-9129","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"},{"name":"Biomedical Research Network for Rare Diseases, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain"},{"name":"Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46026 Valencia, Spain"},{"name":"Biomedical Research Network for Rare Diseases, Hospital Universitario y Polit\u00e9cnico La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,23]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"An Update on the Genetics of Usher Syndrome","volume":"2011","author":"Aller","year":"2011","journal-title":"J. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/cge.13868","article-title":"Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome","volume":"99","author":"Wafa","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_3","unstructured":"Davenport, S.L.H., and Omenn, G.S. (1977, January 21\u201327). The Heterogeneity of Usher Syndrome. Proceedings of the 5th International Conference of Birth Defects, Montreal, QC, Canada."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/ng0697-191","article-title":"The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene","volume":"16","author":"Weil","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1086\/316954","article-title":"Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23","volume":"68","author":"Bork","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_6","first-page":"527","article-title":"Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC","volume":"110","author":"Ahmed","year":"2002","journal-title":"Qual. Life Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3215","DOI":"10.1093\/hmg\/ddg358","article-title":"PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23","volume":"12","author":"Ahmed","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_8","first-page":"26","article-title":"Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness","volume":"111","author":"Ouyang","year":"2002","journal-title":"Qual. Life Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ng1208","article-title":"Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB","volume":"34","author":"Mburu","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1038\/ng.2426","article-title":"Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48","volume":"44","author":"Riazuddin","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1097\/AUD.0000000000000095","article-title":"Nonsyndromic Hearing Loss Caused by USH1G Mutations","volume":"36","author":"Oonk","year":"2015","journal-title":"Ear Hear."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e238","DOI":"10.1097\/AUD.0000000000000278","article-title":"Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene","volume":"37","author":"Vona","year":"2016","journal-title":"Ear Hear."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/ng1197-268","article-title":"Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene","volume":"17","author":"Liu","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1016\/j.ophtha.2010.10.047","article-title":"CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa","volume":"118","author":"Khan","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1038\/ejhg.2014.283","article-title":"A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants","volume":"23","author":"Lenassi","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1750-1172-6-21","article-title":"Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis","volume":"6","author":"Bonnet","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/s13023-014-0168-7","article-title":"Targeted next generation sequencing for molecular diagnosis of Usher syndrome","volume":"9","author":"Aparisi","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"6671","DOI":"10.1167\/iovs.15-17028","article-title":"A Founder Mutation inMYO7AUnderlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora","volume":"56","author":"Roberts","year":"2015","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ijporl.2016.09.010","article-title":"Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family","volume":"90","author":"Zong","year":"2016","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"17113","DOI":"10.1038\/s41598-018-35085-0","article-title":"High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative","volume":"8","author":"Jaijo","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1016\/S0888-7543(05)80121-1","article-title":"Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11","volume":"14","author":"Kimberling","year":"1992","journal-title":"Genomics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type IB","volume":"374","author":"Well","year":"1995","journal-title":"Nature"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e71","DOI":"10.1136\/jmg.2006.045377","article-title":"MYO7A mutation screening in Usher syndrome type I patients from diverse origins","volume":"44","author":"Jaijo","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1097\/MAO.0000000000002054","article-title":"Genetics of Usher Syndrome: New Insights from a Meta-analysis","volume":"40","author":"Jouret","year":"2019","journal-title":"Otol. Neurotol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1086\/302026","article-title":"Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome","volume":"63","author":"Liu","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.heares.2019.02.007","article-title":"Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina","volume":"375","author":"Mathur","year":"2019","journal-title":"Hear. Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/humu.20677","article-title":"Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual function","volume":"29","author":"Riazuddin","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/geno.1996.4545","article-title":"The Genomic Structure of the Gene Defective in Usher Syndrome Type Ib (MYO7A)","volume":"40","author":"Kelley","year":"1997","journal-title":"Genome"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"5478","DOI":"10.1074\/jbc.M210489200","article-title":"Characterization of the Motor Activity of Mammalian Myosin VIIA","volume":"278","author":"Inoue","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_30","first-page":"E3776","article-title":"Structure of Myo7b\/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins","volume":"114","author":"Li","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1126\/science.1198848","article-title":"Structure of MyTH4-FERM Domains in Myosin VIIa Tail Bound to Cargo","volume":"331","author":"Wu","year":"2011","journal-title":"Science"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1167\/iovs.09-4032","article-title":"Function of MYO7A in the Human RPE and the Validity of Shaker1 Mice as a Model for Usher Syndrome 1B","volume":"51","author":"Gibbs","year":"2010","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"6267","DOI":"10.1523\/JNEUROSCI.19-15-06267.1999","article-title":"Myosin VIIa Participates in Opsin Transport through the Photoreceptor Cilium","volume":"19","author":"Liu","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/1097-0169(200006)46:2<95::AID-CM2>3.0.CO;2-Q","article-title":"Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells","volume":"46","author":"Wolfrum","year":"2000","journal-title":"Cell Motil. Cytoskelet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/embo-reports\/kvf090","article-title":"MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes","volume":"3","author":"Schonn","year":"2002","journal-title":"EMBO Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"6481","DOI":"10.1073\/pnas.1130432100","article-title":"Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein","volume":"100","author":"Gibbs","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"6689","DOI":"10.1093\/emboj\/cdf689","article-title":"Myosin VIIa, Harmonin and Cadherin 23, Three Usher I Gene Products That Cooperate to Shape the Sensory Hair Cell Bundle","volume":"21","author":"Bahloul","year":"2002","journal-title":"EMBO J."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"11476","DOI":"10.1073\/pnas.1104161108","article-title":"Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction","volume":"108","author":"Grati","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/nn784","article-title":"Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations","volume":"5","author":"Kros","year":"2001","journal-title":"Nat. Neurosci."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/79178","article-title":"A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene","volume":"26","author":"Lindley","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/79171","article-title":"A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C","volume":"26","author":"Verpy","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1006\/geno.1998.5320","article-title":"A Gene for Recessive Nonsyndromic Sensorineural Deafness (DFNB18) Maps to the Chromosomal Region 11p14\u2013p15.1 Containing the Usher Syndrome Type 1C Gene","volume":"50","author":"Jain","year":"1998","journal-title":"Genomics"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"3933","DOI":"10.1093\/hmg\/ddi417","article-title":"Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type","volume":"14","author":"Reiners","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"16783","DOI":"10.1038\/s41598-017-16846-9","article-title":"Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients","volume":"7","author":"Baux","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Crystal-Shalit, O., Gross, M., Banin, E., and Sharon, D. (2012). Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0051566"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev.neuro.24.1.1","article-title":"PDZ Domains and the Organization of Supramolecular Complexes","volume":"24","author":"Sheng","year":"2001","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.exer.2005.11.010","article-title":"Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease","volume":"83","author":"Reiners","year":"2006","journal-title":"Exp. Eye Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/83667","article-title":"Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D","volume":"27","author":"Bolz","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1086\/341558","article-title":"CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness","volume":"71","author":"Astuto","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"E76","DOI":"10.1002\/humu.20780","article-title":"UMD-USHbases: A comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes","volume":"29","author":"Baux","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.9526","article-title":"Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: Investigation of mRNA splicing","volume":"29","author":"Becirovic","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1136\/jmedgenet-2011-100262","article-title":"Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes","volume":"48","author":"Schultz","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"a029280","DOI":"10.1101\/cshperspect.a029280","article-title":"Beyond Cell\u2013Cell Adhesion: Sensational Cadherins for Hearing and Balance","volume":"10","author":"Jaiganesh","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1083\/jcb.201202012","article-title":"Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice","volume":"199","author":"Sahly","year":"2012","journal-title":"J. Cell Biol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1083\/jcb.201612030","article-title":"Usher syndrome type 1\u2013associated cadherins shape the photoreceptor outer segment","volume":"216","author":"Schietroma","year":"2017","journal-title":"J. Cell Biol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"28706","DOI":"10.1038\/srep28706","article-title":"Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3\u2019s Function","volume":"6","author":"Takahashi","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1086\/321277","article-title":"Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F","volume":"69","author":"Ahmed","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"7022","DOI":"10.1523\/JNEUROSCI.1163-06.2006","article-title":"The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15","volume":"26","author":"Ahmed","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_59","first-page":"215","article-title":"Gene structure and mutant alleles of PCDH15: Nonsyndromic deafness DFNB23 and type 1 Usher syndrome","volume":"124","author":"Ahmed","year":"2008","journal-title":"Qual. Life Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.1093\/hmg\/10.16.1709","article-title":"Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F","volume":"10","author":"Alagramam","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_61","first-page":"87","article-title":"Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells","volume":"449","author":"Kazmierczak","year":"2007","journal-title":"Nat. Cell Biol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.semcdb.2016.08.017","article-title":"Stereocilia morphogenesis and maintenance through regulation of actin stability","volume":"65","author":"McGrath","year":"2017","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"13458","DOI":"10.1038\/ncomms13458","article-title":"An elastic element in the protocadherin-15 tip link of the inner ear","volume":"7","author":"Neel","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"11048","DOI":"10.1073\/pnas.1902163116","article-title":"Elasticity of individual protocadherin 15 molecules implicates tip links as the gating springs for hearing","volume":"116","author":"Bartsch","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.str.2017.01.014","article-title":"A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15","volume":"25","author":"Powers","year":"2017","journal-title":"Structure"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/hmg\/ddg051","article-title":"Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin","volume":"12","author":"Weil","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1111\/j.1399-0004.2010.01500.x","article-title":"A frameshift mutation in SANS results in atypical Usher syndrome","volume":"78","author":"Bashir","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1007\/s00109-005-0719-4","article-title":"A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome","volume":"83","author":"Kalay","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"3923","DOI":"10.1093\/hmg\/ddu104","article-title":"Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis","volume":"23","author":"Knapp","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"5825","DOI":"10.1073\/pnas.1017114108","article-title":"Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia","volume":"108","author":"Caberlotto","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/hmg\/ddm285","article-title":"A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells","volume":"17","author":"Maerker","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1016\/j.bbamcr.2011.05.015","article-title":"Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina","volume":"1813","author":"Overlack","year":"2011","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/978-1-4614-3209-8_67","article-title":"Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies","volume":"801","author":"Sorusch","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_74","first-page":"1157","article-title":"Characterization of the ternary Usher syndrome SANS\/ush2a\/whirlin protein complex","volume":"26","author":"Sorusch","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1007\/s00405-016-4330-9","article-title":"Advances in genetic hearing loss: CIB2 gene","volume":"274","author":"Jacoszek","year":"2016","journal-title":"Eur. Arch. Oto-Rhino-Laryngol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-017-00061-1","article-title":"CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells","volume":"8","author":"Giese","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.15252\/emmm.201708087","article-title":"CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival","volume":"9","author":"Michel","year":"2017","journal-title":"EMBO Mol. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"401","DOI":"10.3389\/fnmol.2017.00401","article-title":"Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice","volume":"10","author":"Wang","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1111\/cge.13170","article-title":"Variants in CIB2 cause DFNB48 and not USH1J","volume":"93","author":"Booth","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0888-7543(90)90546-7","article-title":"Localization of Usher syndrome type II to chromosome 1q","volume":"7","author":"Kimberling","year":"1990","journal-title":"Genomics"},{"key":"ref_81","first-page":"216","article-title":"Gene Mapping of Usher Syndrome Type IIa: Localization of the Gene to a 2.1-cM Segment on Chromosome 1q41","volume":"56","author":"Kimberling","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/321269","article-title":"A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation","volume":"69","author":"Dreyer","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1038\/ejhg.2010.14","article-title":"The USH2A c.2299delG mutation: Dating its common origin in a Southern European population","volume":"18","author":"Aller","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1136\/jmg.2009.075143","article-title":"Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa","volume":"47","author":"McGee","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1086\/302926","article-title":"Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss","volume":"66","author":"Rivolta","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1126\/science.280.5370.1753","article-title":"Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa","volume":"280","author":"Eudy","year":"1998","journal-title":"Science"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1086\/302855","article-title":"Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa","volume":"66","author":"Weston","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1086\/383096","article-title":"Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II","volume":"74","author":"Pennings","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"3921","DOI":"10.1093\/hmg\/ddi416","article-title":"Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells","volume":"14","author":"Adato","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"6478","DOI":"10.1523\/JNEUROSCI.0342-07.2007","article-title":"Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning","volume":"27","author":"Michalski","year":"2007","journal-title":"J. Neurosci."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.2741\/3979","article-title":"Current Understanding of Usher Syndrome Type II","volume":"17","author":"Yang","year":"2012","journal-title":"Front. Biosci."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"4413","DOI":"10.1073\/pnas.0610950104","article-title":"Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells","volume":"104","author":"Liu","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-5955(01)00344-6","article-title":"Localization and expression of usherin: A novel basement membrane protein defective in people with Usher\u2019s syndrome type IIa","volume":"163","author":"Bhattacharya","year":"2002","journal-title":"Hear. Res."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1086\/381685","article-title":"Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II","volume":"74","author":"Weston","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1074\/jbc.M108929200","article-title":"Very Large G Protein-coupled Receptor-1, the Largest Known Cell Surface Protein, Is Highly Expressed in the Developing Central Nervous System","volume":"277","author":"McMillan","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/s12031-012-9911-5","article-title":"The Very Large G Protein Coupled Receptor (Vlgr1) in Hair Cells","volume":"50","author":"Sun","year":"2012","journal-title":"J. Mol. Neurosci."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1111\/j.1365-2443.2007.01046.x","article-title":"Vlgr1 is required for proper stereocilia maturation of cochlear hair cells","volume":"12","author":"Yagi","year":"2007","journal-title":"Genes Cells"},{"key":"ref_98","first-page":"203","article-title":"A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss","volume":"121","author":"Ebermann","year":"2006","journal-title":"Qual. Life Res."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1093\/hmg\/ddi490","article-title":"The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1","volume":"15","author":"Peters","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/humu.23666","article-title":"Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss","volume":"40","author":"Richard","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/humu.9333","article-title":"Identification of a novel frameshift mutation in the DFNB31\/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss","volume":"25","author":"Tlili","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_102","first-page":"1598","article-title":"A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family","volume":"17","author":"Audo","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1002\/humu.22004","article-title":"Non-USH2A mutations in USH2 patients","volume":"33","author":"Besnard","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1186\/s13023-015-0329-3","article-title":"Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: High rate of ethnicity specific mutations in Chinese USH patients","volume":"10","author":"Jiang","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1750-1172-8-85","article-title":"Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing","volume":"8","author":"Yang","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.celrep.2016.03.081","article-title":"Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia","volume":"15","author":"Ebrahim","year":"2016","journal-title":"Cell Rep."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Yang, J., Liu, X., Zhao, Y., Adamian, M., Pawlyk, B.S., Sun, X., McMillan, D.R., Liberman, M.C., and Li, T. (2010). Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1000955"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1093\/hmg\/ddi036","article-title":"Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly","volume":"14","author":"Delprat","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/cne.10301","article-title":"Elongation of hair cell stereocilia is defective in the mouse mutant whirler","volume":"450","author":"Holme","year":"2002","journal-title":"J. Comp. Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1093\/hmg\/ddi035","article-title":"Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium","volume":"14","author":"Kikkawa","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.cub.2010.12.046","article-title":"Regulation of Stereocilia Length by Myosin XVa and Whirlin Depends on the Actin-Regulatory Protein Eps8","volume":"21","author":"Manor","year":"2011","journal-title":"Curr. Biol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"2338","DOI":"10.1167\/iovs.09-4650","article-title":"Association of Whirlin with Cav1.3 (\u03b11D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network","volume":"51","author":"Kersten","year":"2010","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/hmg\/4.1.93","article-title":"Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q","volume":"4","author":"Sankila","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1086\/323610","article-title":"Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3","volume":"69","author":"Joensuu","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/sj.ejhg.5200831","article-title":"USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses","volume":"10","author":"Adato","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_116","first-page":"30","article-title":"Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)","volume":"19","author":"Jalkanen","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1083\/jcb.201404016","article-title":"Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly","volume":"207","author":"Ogun","year":"2014","journal-title":"J. Cell Biol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1093\/hmg\/ddp210","article-title":"Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation","volume":"18","author":"Geng","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.heares.2009.06.006","article-title":"Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors","volume":"255","author":"Zallocchi","year":"2009","journal-title":"Hear. Res."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1750-1172-7-59","article-title":"Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3","volume":"7","author":"Eisenberger","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_121","doi-asserted-by":"crossref","unstructured":"Puffenberger, E.G., Jinks, R.N., Sougnez, C., Cibulskis, K., Willert, R.A., Achilly, N.P., Cassidy, R.P., Fiorentini, C.J., Heiken, K.F., and Lawrence, J.J. (2012). Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0028936"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/humu.22210","article-title":"A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo","volume":"34","author":"Vester","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1093\/brain\/awv158","article-title":"Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies","volume":"138","author":"Brozkova","year":"2015","journal-title":"Brain"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1002\/humu.24024","article-title":"Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome","volume":"41","author":"Galatolo","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/febs.15538","article-title":"Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy","volume":"288","author":"Antonellis","year":"2021","journal-title":"FEBS J."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmedgenet-2014-102287","article-title":"A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome","volume":"51","author":"Khateb","year":"2014","journal-title":"J. Med. Genet."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1080\/13816810.2018.1466338","article-title":"CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family","volume":"39","author":"Kubota","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1038\/gim.2017.227","article-title":"A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans","volume":"20","author":"Khateb","year":"2018","journal-title":"Genet. Med."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"100736","DOI":"10.1016\/j.ajoc.2020.100736","article-title":"Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4","volume":"19","author":"Navarro","year":"2020","journal-title":"Am. J. Ophthalmol. Case Rep."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/humu.24150","article-title":"New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV","volume":"42","author":"Peter","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.ajhg.2016.07.010","article-title":"Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss","volume":"99","author":"Namburi","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.ajhg.2016.07.009","article-title":"Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects","volume":"99","author":"Nikopoulos","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2016-104166","article-title":"CEP78is mutated in a distinct type of Usher syndrome","volume":"54","author":"Fu","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1136\/jmedgenet-2017-105221","article-title":"Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment","volume":"55","author":"Ahmed","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_135","first-page":"5111","article-title":"Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II","volume":"20","author":"Wang","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1172\/JCI39715","article-title":"PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome","volume":"120","author":"Ebermann","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_137","unstructured":"Garc\u00eda, C.F. (2020). Therapeutic Approaches and Development of Genomic Diagnostic Tools for Usher Syndrome, Universitat Politecnica de Valencia."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"14946","DOI":"10.1073\/pnas.232579599","article-title":"The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions","volume":"99","author":"Siemens","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/hmg\/ddi031","article-title":"Interactions in the network of Usher syndrome type 1 proteins","volume":"14","author":"Adato","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_140","first-page":"347","article-title":"Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)","volume":"11","author":"Reiners","year":"2005","journal-title":"Mol. Vis."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1523\/JNEUROSCI.4251-05.2006","article-title":"Physical and Functional Interaction between Protocadherin 15 and Myosin VIIa in Mechanosensory Hair Cells","volume":"26","author":"Senften","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"3382","DOI":"10.1172\/JCI94351","article-title":"Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome","volume":"128","author":"Dulon","year":"2018","journal-title":"J. Clin. Investig."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.neuron.2009.04.006","article-title":"Harmonin Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells","volume":"62","author":"Grillet","year":"2009","journal-title":"Neuron"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"3557","DOI":"10.1093\/hmg\/ddq271","article-title":"Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids","volume":"19","author":"Bahloul","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_145","first-page":"547","article-title":"Usher protein complexes preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis","volume":"7","author":"Junior","year":"2014","journal-title":"Dis. Model. Mech."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"5575","DOI":"10.1073\/pnas.0901819106","article-title":"Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin","volume":"106","author":"Pan","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"7187","DOI":"10.1523\/JNEUROSCI.0852-10.2010","article-title":"Targeting of the Hair Cell Proteins Cadherin 23, Harmonin, Myosin XVa, Espin, and Prestin in an Epithelial Cell Model","volume":"30","author":"Zheng","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_148","first-page":"128","article-title":"Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction","volume":"492","author":"Sotomayor","year":"2012","journal-title":"Nat. Cell Biol."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/nrg1377","article-title":"Genetic insights into the morphogenesis of inner ear hair cells","volume":"5","author":"Frolenkov","year":"2004","journal-title":"Nat. Rev. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/nn.2330","article-title":"Linking genes underlying deafness to hair-bundle development and function","volume":"12","author":"Petit","year":"2009","journal-title":"Nat. Neurosci."},{"key":"ref_151","first-page":"1285","article-title":"Educational paper","volume":"171","author":"Bergmann","year":"2011","journal-title":"Eur. J. Nucl. Med. Mol. Imaging"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"3120","DOI":"10.2174\/0929867325666180917102557","article-title":"Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies","volume":"26","author":"Shivanna","year":"2019","journal-title":"Curr. Med. Chem."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"a028274","DOI":"10.1101\/cshperspect.a028274","article-title":"Photoreceptor Cilia and Retinal Ciliopathies","volume":"9","author":"Bujakowska","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1055\/a-0573-9199","article-title":"Retinale Ziliopathien","volume":"235","author":"Koller","year":"2018","journal-title":"Klinische Monatsbl\u00e4tter Augenheilkunde"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/978-3-319-95046-4_32","article-title":"Ciliopathy: Usher Syndrome","volume":"Volume 1085","author":"Tsang","year":"2018","journal-title":"Advances in Experimental Medicine and Biology"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/jmg.30.3.253","article-title":"Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers","volume":"30","author":"Bonneau","year":"1993","journal-title":"J. Med. Genet."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"28309","DOI":"10.1038\/srep28309","article-title":"Accelerated age-related olfactory decline among type 1 Usher patients","volume":"6","author":"Ribeiro","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1002\/ajmg.1320640402","article-title":"Olfactory loss in Usher syndrome: Another sensory deficit?","volume":"64","author":"Zrada","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","unstructured":"Aparisi, M.J., Garc\u00eda-Garc\u00eda, G., Aller, E., Sequedo, M.D., de la Camara, C.M.-F., Rodrigo, R., Armengot, M., Cortijo, J., Milara, J., and D\u00edaz-Llopis, M. (2013). Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0057506"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.bbamcr.2015.10.016","article-title":"Whirlin increases TRPV1 channel expression and cellular stability","volume":"1863","author":"Ciardo","year":"2016","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1001\/archopht.1986.01050150085033","article-title":"Abnormal Sperm and Photoreceptor Axonemes in Usher\u2019s Syndrome","volume":"104","author":"Hunter","year":"1986","journal-title":"Arch. Ophthalmol."},{"key":"ref_163","doi-asserted-by":"crossref","unstructured":"Frenzel, H., Bohlender, J., Pinsker, K., Wohlleben, B., Tank, J., Lechner, S.G., Schiska, D., Jaijo, T., R\u00fcschendorf, F., and Saar, K. (2012). A Genetic Basis for Mechanosensory Traits in Humans. PLoS Biol., 10.","DOI":"10.1371\/journal.pbio.1001318"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1038\/s41598-017-04074-0","article-title":"Congenital deafness is associated with specific somatosensory deficits in adolescents","volume":"7","author":"Moshourab","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/s41593-020-00751-y","article-title":"USH2A is a Meissner\u2019s corpuscle protein necessary for normal vibration sensing in mice and humans","volume":"24","author":"Schwaller","year":"2021","journal-title":"Nat. Neurosci."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"107932","DOI":"10.1016\/j.heares.2020.107932","article-title":"Disease mechanisms and gene therapy for Usher syndrome","volume":"394","year":"2020","journal-title":"Hear. Res."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/dneu.20771","article-title":"Deafness and retinal degeneration in a novel USH1C knock-in mouse model","volume":"70","author":"Lentz","year":"2010","journal-title":"Dev. Neurobiol."},{"key":"ref_168","doi-asserted-by":"crossref","unstructured":"Yao, L., Zhang, L., Qi, L.-S., Liu, W., An, J., Wang, B., Xue, J.-H., and Zhang, Z.-M. (2016). The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0155619"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.exer.2018.05.015","article-title":"Usherin defects lead to early-onset retinal dysfunction in zebrafish","volume":"173","author":"Dona","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1523\/JNEUROSCI.0693-06.2006","article-title":"The Very Large G-Protein-Coupled Receptor VLGR1: A Component of the Ankle Link Complex Required for the Normal Development of Auditory Hair Bundles","volume":"26","author":"McGee","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/bs.mcb.2016.10.006","article-title":"Zebrafish models of human eye and inner ear diseases","volume":"138","author":"Phillips","year":"2017","journal-title":"Meth. Cell Biol."},{"key":"ref_172","first-page":"779","article-title":"Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy","volume":"137","author":"Han","year":"2018","journal-title":"Qual. Life Res."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/hmg\/9.14.2189","article-title":"Mariner is defective in myosin VIIA: A zebrafish model for human hereditary deafness","volume":"9","author":"Ernest","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.exer.2014.03.007","article-title":"myosin 7aa\u2212\/\u2212 mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses","volume":"122","author":"Wasfy","year":"2014","journal-title":"Exp. Eye Res."},{"key":"ref_175","first-page":"62","article-title":"A type VII myosin encoded by the mouse deafness gene shaker-1","volume":"374","author":"Gibson","year":"1995","journal-title":"Nat. Cell Biol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1046\/j.1365-4624.1997.00020.x","article-title":"Mutation analysis of the mouse myosin VIIA deafness gene","volume":"1","author":"Mburu","year":"1997","journal-title":"Genes Funct."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1007\/s00335-004-2344-x","article-title":"A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment","volume":"15","author":"Rhodes","year":"2004","journal-title":"Mamm. Genome"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1523\/JNEUROSCI.4975-06.2007","article-title":"A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function","volume":"27","author":"Schwander","year":"2007","journal-title":"J. Neurosci."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"15810","DOI":"10.1523\/JNEUROSCI.4876-09.2009","article-title":"A Novel Allele of Myosin VIIa Reveals a Critical Function for the C-Terminal FERM Domain for Melanosome Transport in Retinal Pigment Epithelial Cells","volume":"29","author":"Schwander","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_180","doi-asserted-by":"crossref","unstructured":"Miller, K.A., Williams, L.H., Rose, E., Kuiper, M., Dahl, H.-H.M., and Manji, S.S.M. (2012). Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0051284"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.3389\/fnins.2019.01255","article-title":"A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies","volume":"13","author":"Calabro","year":"2019","journal-title":"Front. Neurosci."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1242\/dmm.006429","article-title":"Harmonin (Ush1c) is required in zebrafish M\u00fcller glial cells for photoreceptor synaptic development and function","volume":"4","author":"Phillips","year":"2011","journal-title":"Dis. Model. Mech."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"3075","DOI":"10.1093\/hmg\/ddg332","article-title":"Mouse models of USH1C and DFNB18: Phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene","volume":"12","author":"Johnson","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1242\/dev.012922","article-title":"A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth","volume":"135","author":"Michel","year":"2008","journal-title":"Development"},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.brainres.2010.02.079","article-title":"Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse","volume":"1328","author":"Tian","year":"2010","journal-title":"Brain Res."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.mrfmmm.2006.11.006","article-title":"Ush1c216A knock-in mouse survives Katrina","volume":"616","author":"Lentz","year":"2007","journal-title":"Mutat. Res. Mol. Mech. Mutagen."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-018-20171-0","article-title":"Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments","volume":"8","author":"Trouillet","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_188","first-page":"955","article-title":"Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells","volume":"428","author":"Rauch","year":"2004","journal-title":"Nat. Cell Biol."},{"key":"ref_189","first-page":"2309","article-title":"The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells","volume":"18","author":"Glover","year":"2012","journal-title":"Molec. Vision"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/83660","article-title":"Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D","volume":"27","author":"Holme","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1242\/dev.01591","article-title":"Duplicated genes with split functions: Independent roles of protocadherin15 orthologues in zebrafish hearing and vision","volume":"132","author":"Seiler","year":"2005","journal-title":"Development"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"4395","DOI":"10.1523\/JNEUROSCI.4514-12.2013","article-title":"Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells","volume":"33","author":"Geng","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/hmg\/ddg042","article-title":"Mutations in a New Scaffold Protein Sans Cause Deafness in Jackson Shaker Mice","volume":"12","author":"Kikkawa","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/oxfordjournals.jhered.a107262","article-title":"WHIRLER MICE: A Recessive Behavior Mutation in Linkage Group VIII","volume":"54","author":"Lane","year":"1963","journal-title":"J. Hered."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1006\/geno.1994.1222","article-title":"Linkage Analysis of the whirler Deafness Gene on Mouse Chromosome 4","volume":"21","author":"Fleming","year":"1994","journal-title":"Genome"},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s003359901032","article-title":"Genetic mapping of the whirler mutation","volume":"10","author":"Rogers","year":"1999","journal-title":"Mamm. Genome"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s003350010010","article-title":"A deletion on chromosome 4 cosegregates with the whirler deafness mutation: Exclusion of Orm1 as a candidate","volume":"11","author":"Paige","year":"2000","journal-title":"Mamm. Genome"},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"10188","DOI":"10.1523\/JNEUROSCI.1096-15.2015","article-title":"Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein","volume":"35","author":"Gopal","year":"2015","journal-title":"J. Neurosci."},{"key":"ref_199","doi-asserted-by":"crossref","unstructured":"Geller, S.F., Guerin, K.I., Visel, M., Pham, A., Lee, E.S., Dror, A.A., Avraham, K.B., Hayashi, T., Ray, C.A., and Reh, T.A. (2009). CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development. PLoS Genet., 5.","DOI":"10.1371\/journal.pgen.1000607"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"9485","DOI":"10.1523\/JNEUROSCI.0311-12.2012","article-title":"The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene","volume":"32","author":"Geng","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-017-13620-9","article-title":"Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III","volume":"7","author":"Geng","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/path.5360","article-title":"Clarin-1 expression in adult mouse and human retina highlights a role of M\u00fcller glia in Usher syndrome","volume":"250","author":"Xu","year":"2020","journal-title":"J. Pathol."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/humu.21634","article-title":"Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy","volume":"33","author":"Besnard","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/humu.22926","article-title":"WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations","volume":"37","author":"Liquori","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_205","first-page":"1","article-title":"A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula","volume":"7","author":"Khan","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_206","first-page":"102","article-title":"Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome","volume":"13","author":"Malcolm","year":"2007","journal-title":"Mol. Vis."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"5480","DOI":"10.1167\/iovs.10-5359","article-title":"Identification of Large Rearrangements of thePCDH15Gene by Combined MLPA and a CGH: Large Duplications Are Responsible for Usher Syndrome","volume":"51","author":"Aller","year":"2010","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_208","first-page":"1398","article-title":"Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa","volume":"20","author":"Aller","year":"2014","journal-title":"Mol. Vis."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"623","DOI":"10.3389\/fgene.2020.00623","article-title":"A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1","volume":"11","author":"Puechberty","year":"2020","journal-title":"Front. Genet."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1016\/j.csbj.2020.05.025","article-title":"Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss","volume":"18","author":"Yu","year":"2020","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.mcn.2004.02.005","article-title":"Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice","volume":"26","author":"McMillan","year":"2004","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_212","doi-asserted-by":"crossref","unstructured":"P\u00e9rez-Carro, R., Blanco-Kelly, F., Galbis-Mart\u00ednez, L., Garc\u00eda-Garc\u00eda, G., Aller, E., Garc\u00eda-Sandoval, B., M\u00ednguez, P., Corton, M., Mah\u00edllo-Fern\u00e1ndez, I., and Mart\u00edn-M\u00e9rida, I. (2018). Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0199048"},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/ejhg.2008.231","article-title":"Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15","volume":"17","author":"Doucette","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/ar.a.20297","article-title":"Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum","volume":"288A","author":"Mchugh","year":"2006","journal-title":"Anat. Rec. Part. A Discov. Mol. Cell. Evol. Biol."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1097\/IAE.0000000000002636","article-title":"Phenotypic characteristics of rod\u2013cone dystrophy associated with myo7a mutations in a large french cohort","volume":"40","author":"Khateb","year":"2020","journal-title":"Retina"},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1016\/j.ophtha.2019.06.017","article-title":"Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation\u2013Associated Inherited Retinal Dystrophy","volume":"126","author":"Maguire","year":"2019","journal-title":"Ophthalmology"},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/nm.3106","article-title":"Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness","volume":"19","author":"Lentz","year":"2013","journal-title":"Nat. Med."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"e381","DOI":"10.1038\/mtna.2016.89","article-title":"Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation","volume":"5","author":"Slijkerman","year":"2016","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/j.ymthe.2017.03.023","article-title":"FDA-Approved Oligonucleotide Therapies in 2017","volume":"25","author":"Stein","year":"2017","journal-title":"Mol. Ther."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/13\/6723\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:21:58Z","timestamp":1760163718000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/13\/6723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,23]]},"references-count":219,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2021,7]]}},"alternative-id":["ijms22136723"],"URL":"https:\/\/doi.org\/10.3390\/ijms22136723","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,23]]}}}