{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T07:20:36Z","timestamp":1778311236760,"version":"3.51.4"},"reference-count":60,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2014,5,15]],"date-time":"2014-05-15T00:00:00Z","timestamp":1400112000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0097808","type":"journal-article","created":{"date-parts":[[2014,5,15]],"date-time":"2014-05-15T20:55:29Z","timestamp":1400187329000},"page":"e97808","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":26,"title":["Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2"],"prefix":"10.1371","volume":"9","author":[{"given":"Weining","family":"Rong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanxing","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yani","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaoping","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenzhou","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xunlun","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,5,15]]},"reference":[{"key":"ref1","first-page":"56","article-title":"Usher syndrome: hearing loss with vision loss","volume":"70","author":"TB Friedman","year":"2011","journal-title":"Adv Otorhinolaryngol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0021-9681(83)90147-9","article-title":"Usher syndrome: definition and estimate of prevalence from two high-risk populations","volume":"36","author":"JA Boughman","year":"1983","journal-title":"J Chronic Dis"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/jhg.2010.29","article-title":"Genetics and pathological mechanisms of Usher syndrome","volume":"55","author":"D Yan","year":"2010","journal-title":"J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1097\/GIM.0b013e3181e5afb8","article-title":"Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children","volume":"12","author":"WJ Kimberling","year":"2010","journal-title":"Genet Med"},{"key":"ref5","first-page":"290","article-title":"Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat","volume":"27","author":"T Jaijo","year":"2006"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"417217","DOI":"10.1155\/2011\/417217","article-title":"An update on the genetics of usher syndrome","volume":"2011","author":"JM Millan","year":"2011","journal-title":"J Ophthalmol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/WCO.0b013e3283218807","article-title":"Update on Usher syndrome","volume":"22","author":"Z Saihan","year":"2009","journal-title":"Curr Opin Neurol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type 1B","volume":"374","author":"D Weil","year":"1995","journal-title":"Nature"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/bjo.81.1.46","article-title":"Usher syndrome in the city of Birmingham\u2013prevalence and clinical classification","volume":"81","author":"CI Hope","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"ref10","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":"M Bitner-Glindzicz","year":"2000","journal-title":"Nat Genet"},{"key":"ref11","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":"H Bolz","year":"2001","journal-title":"Nat Genet"},{"key":"ref12","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":"ZM Ahmed","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref13","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":"D Weil","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref14","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":"S Riazuddin","year":"2012","journal-title":"Nat Genet"},{"key":"ref15","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":"JD Eudy","year":"1998","journal-title":"Science"},{"key":"ref16","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":"MD Weston","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref17","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 DFNB31","volume":"34","author":"P Mburu","year":"2003","journal-title":"Nat Genet"},{"key":"ref18","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":"T Joensuu","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1093\/hmg\/ddn395","article-title":"Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment","volume":"18","author":"E Schneider","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref20","first-page":"173","article-title":"Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res","volume":"71","author":"AK Bharadwaj","year":"2000"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s00439-004-1227-2","article-title":"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population","volume":"116","author":"XM Ouyang","year":"2005","journal-title":"Hum Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1136\/jmg.2006.041954","article-title":"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%","volume":"43","author":"AF Roux","year":"2006","journal-title":"J Med Genet"},{"key":"ref23","first-page":"E37","article-title":"Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat","volume":"29","author":"A Oshima","year":"2008"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/jmg.30.10.843","article-title":"Genetic heterogeneity of Usher syndrome type II","volume":"30","author":"S Pieke Dahl","year":"1993","journal-title":"J Med Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1167\/iovs.12-10967","article-title":"Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases","volume":"54","author":"X Chen","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref26","doi-asserted-by":"crossref","unstructured":"Chen X, Liu Y, Sheng X, Tam PO, Zhao K, <etal>et al<\/etal>.. (2014) PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet.","DOI":"10.1093\/hmg\/ddu005"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1038\/eye.2013.137","article-title":"Contribution of SNRNP200 sequence variations to retinitis pigmentosa","volume":"27","author":"X Zhang","year":"2013","journal-title":"Eye (Lond)"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1093\/bioinformatics\/btp336","article-title":"SOAP2: an improved ultrafast tool for short read alignment","volume":"25","author":"R Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"H Li","year":"2010","journal-title":"Bioinformatics"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s00439-006-0168-3","article-title":"A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1","volume":"119","author":"C Zhao","year":"2006","journal-title":"Hum Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","article-title":"The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling","volume":"22","author":"K Arnold","year":"2006","journal-title":"Bioinformatics"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"D387","DOI":"10.1093\/nar\/gkn750","article-title":"The SWISS-MODEL Repository and associated resources","volume":"37","author":"F Kiefer","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"ref34","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":"XZ Liu","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"4527","DOI":"10.1038\/sj.emboj.7600458","article-title":"Three myosin V structures delineate essential features of chemo-mechanical transduction","volume":"23","author":"PD Coureux","year":"2004","journal-title":"EMBO J"},{"key":"ref36","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":"C Bonnet","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/978-1-4615-0067-4_17","article-title":"The cellular function of the usher gene product myosin VIIa is specified by its ligands","volume":"533","author":"U Wolfrum","year":"2003","journal-title":"Adv Exp Med Biol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"9815","DOI":"10.1073\/pnas.92.21.9815","article-title":"Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B","volume":"92","author":"T Hasson","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref39","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":"D Gibbs","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/(SICI)1097-0169(1997)37:3<240::AID-CM6>3.0.CO;2-A","article-title":"Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells","volume":"37","author":"X Liu","year":"1997","journal-title":"Cell Motil Cytoskeleton"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.visres.2007.08.015","article-title":"Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy","volume":"48","author":"DS Williams","year":"2008","journal-title":"Vision Res"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1042\/BST0391207","article-title":"The many different cellular functions of MYO7A in the retina","volume":"39","author":"DS Williams","year":"2011","journal-title":"Biochem Soc Trans"},{"key":"ref43","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":"X Liu","year":"1999","journal-title":"J Neurosci"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1006\/exer.2000.0963","article-title":"Coincident onset of expression of myosin VIIa and opsin in the cilium of the developing photoreceptor cell","volume":"72","author":"X Liu","year":"2001","journal-title":"Exp Eye Res"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/470","article-title":"Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice","volume":"19","author":"X Liu","year":"1998","journal-title":"Nat Genet"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"6473","DOI":"10.1242\/jcs.01580","article-title":"Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes","volume":"117","author":"D Gibbs","year":"2004","journal-title":"J Cell Sci"},{"key":"ref47","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":"D Gibbs","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref48","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":"XZ Liu","year":"1997","journal-title":"Nat Genet"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/ng0697-188","article-title":"Mutations in the myosin VIIA gene cause non-syndromic recessive deafness","volume":"16","author":"XZ Liu","year":"1997","journal-title":"Nat Genet"},{"key":"ref50","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":"D Weil","year":"1997","journal-title":"Nat Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1002\/humu.21587","article-title":"Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis","volume":"32","author":"X Wang","year":"2011","journal-title":"Hum Mutat"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/humu.20677","article-title":"Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function","volume":"29","author":"S Riazuddin","year":"2008","journal-title":"Hum Mutat"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/S0092-8674(00)81598-6","article-title":"Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state","volume":"94","author":"R Dominguez","year":"1998","journal-title":"Cell"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"16400","DOI":"10.1074\/jbc.274.23.16400","article-title":"Functional significance of the conserved residues in the flexible hinge region of the myosin motor domain","volume":"274","author":"T Kambara","year":"1999","journal-title":"J Biol Chem"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1172\/JCI34211","article-title":"Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay","volume":"118","author":"T Rio Frio","year":"2008","journal-title":"J Clin Invest"},{"key":"ref56","first-page":"695","article-title":"Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1","volume":"19","author":"F Liu","year":"2013","journal-title":"Mol Vis"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"e90688","DOI":"10.1371\/journal.pone.0090688","article-title":"Massively parallel DNA sequencing facilitates diagnosis of patients with usher syndrome type 1","volume":"9","author":"H Yoshimura","year":"2014","journal-title":"PLoS One"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1399-0004.2010.01454.x","article-title":"Functional analysis of splicing mutations in MYO7A and USH2A genes","volume":"79","author":"T Jaijo","year":"2011","journal-title":"Clin Genet"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/jhg.2009.107","article-title":"Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II","volume":"54","author":"D Yan","year":"2009","journal-title":"J Hum Genet"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"e55","DOI":"10.1136\/jmg.2006.041764","article-title":"Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II","volume":"43","author":"E Aller","year":"2006","journal-title":"J Med Genet"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0097808","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T14:03:32Z","timestamp":1565445812000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0097808"}},"subtitle":[],"editor":[{"given":"Ludmila","family":"Prokunina-Olsson","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,5,15]]},"references-count":60,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,5,15]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0097808","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,15]]}}}