{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T05:08:37Z","timestamp":1789189717868,"version":"build-2803163510"},"reference-count":77,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","award":["2013-0825"],"award-info":[{"award-number":["2013-0825"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Hearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin filaments. They play key roles during metazoan development, and they seem particularly pivotal for the correct physiology of the reproductive and auditory systems. Indeed, in Drosophila melanogaster, a single diaphanous (dia) gene is present, and mutants show sterility and impaired response to sound. Vertebrates, instead, have three orthologs of the diaphanous gene: DIAPH1, DIAPH2, and DIAPH3. In humans, defects in DIAPH1 and DIAPH3 have been associated with different types of hearing loss. In particular, heterozygous mutations in DIAPH1 are responsible for autosomal dominant deafness with or without thrombocytopenia (DFNA1, MIM #124900), whereas regulatory mutations inducing the overexpression of DIAPH3 cause autosomal dominant auditory neuropathy 1 (AUNA1, MIM #609129). Here, we provide an overview of the expression and function of DRFs in normal hearing and deafness.<\/jats:p>","DOI":"10.3390\/cells11111726","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T22:04:06Z","timestamp":1653429846000},"page":"1726","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7927-8317","authenticated-orcid":false,"given":"Chiara","family":"Chiereghin","sequence":"first","affiliation":[{"name":"IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Robusto","sequence":"additional","affiliation":[{"name":"Experimental Therapeutics Program, IFOM ETS\u2014The AIRC Institute of Molecular Oncology, Via Adamello 16, 20139 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2246-9515","authenticated-orcid":false,"given":"Valentina","family":"Massa","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze della Salute, Universit\u00e0 degli Studi di Milano, Via Di Rudin\u00ec 8, 20146 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierangela","family":"Castorina","sequence":"additional","affiliation":[{"name":"Casa di Cura Igea, Via Marcona 69, 20129 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Ambrosetti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Cliniche e di Comunit\u00e0, Universit\u00e0 degli Studi di Milano and Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, UO Audiologia, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5351-0619","authenticated-orcid":false,"given":"Rosanna","family":"Asselta","sequence":"additional","affiliation":[{"name":"IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Milan, Italy"},{"name":"Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0972-610X","authenticated-orcid":false,"given":"Giulia","family":"Sold\u00e0","sequence":"additional","affiliation":[{"name":"IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Milan, Italy"},{"name":"Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.heares.2011.12.003","article-title":"Actin in hair cells and hearing loss","volume":"288","author":"Drummond","year":"2012","journal-title":"Hear. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e27634","DOI":"10.4161\/cib.27634","article-title":"Formin\u2019 cellular structures: Physiological roles of Diaphanous (Dia) in actin dynamics","volume":"6","author":"Bogdan","year":"2013","journal-title":"Commun. Integr. Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nrm2867","article-title":"A nucleator arms race: Cellular control of actin assembly","volume":"11","author":"Campellone","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Labat-De-Hoz, L., and Alonso, M.A. (2021). Formins in Human Disease. Cells, 10.","DOI":"10.3390\/cells10102554"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"35236","DOI":"10.1074\/jbc.M805634200","article-title":"Specificity of Interactions between mDia Isoforms and Rho Proteins","volume":"283","author":"Lammers","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/nrm2816","article-title":"Unleashing formins to remodel the actin and microtubule cytoskeletons","volume":"11","author":"Chesarone","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"4575","DOI":"10.1091\/mbc.e11-07-0616","article-title":"Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules","volume":"22","author":"Gaillard","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3367","DOI":"10.1242\/dev.120.12.3367","article-title":"Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene","volume":"120","author":"Castrillon","year":"1994","journal-title":"Development"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1186\/1471-2148-8-115","article-title":"Roots of angiosperm formins: The evolutionary history of plant FH2 domain-containing proteins","volume":"8","author":"Grunt","year":"2008","journal-title":"BMC Evol. Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1126\/science.290.5494.1151","article-title":"The Evolutionary Fate and Consequences of Duplicate Genes","volume":"290","author":"Lynch","year":"2000","journal-title":"Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"16516","DOI":"10.1096\/fj.202001178R","article-title":"DIAPH1 regulates ciliogenesis and trafficking in primary cilia","volume":"34","author":"Palander","year":"2020","journal-title":"FASEB J."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"100680","DOI":"10.1016\/j.jbc.2021.100680","article-title":"Nonredundant roles of DIAPHs in primary ciliogenesis","volume":"296","author":"Palander","year":"2021","journal-title":"J. Biol. Chem."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1091\/mbc.e13-08-0482","article-title":"Essential and nonredundant roles for Diaphanous formins in cortical microtubule capture and directed cell migration","volume":"25","author":"Daou","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1146\/annurev.biochem.75.103004.142647","article-title":"Mechanism and Function of Formins in the Control of Actin Assembly","volume":"76","author":"Goode","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.molcel.2005.04.002","article-title":"Structural Basis of Rho GTPase-Mediated Activation of the Formin mDia1","volume":"18","author":"Otomo","year":"2005","journal-title":"Mol. Cell"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/nature03604","article-title":"Structural and mechanistic insights into the interaction between Rho and mammalian Dia","volume":"435","author":"Rose","year":"2005","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.bbamcr.2008.09.017","article-title":"Formins in cell signaling","volume":"1803","author":"Young","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/11056","article-title":"Cooperation between mDia1 and ROCK in Rho-induced actin reorganization","volume":"1","author":"Watanabe","year":"1999","journal-title":"Nat. Cell Biol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.15252\/emmm.201606609","article-title":"Constitutive activation of DIA 1 ( DIAPH 1) via C-terminal truncation causes human sensorineural hearing loss","volume":"8","author":"Ueyama","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jmedgenet-2019-106282","article-title":"Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy","volume":"56","author":"Kim","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.str.2005.12.003","article-title":"Structure of the Autoinhibitory Switch in Formin mDia1","volume":"14","author":"Nezami","year":"2006","journal-title":"Structure"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Nezami, A., Poy, F., Toms, A., Zheng, W., and Eck, M.J. (2010). Crystal Structure of a Complex between Amino and Carboxy Terminal Fragments of mDia1: Insights into Autoinhibition of Diaphanous-Related Formins. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012992"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Otomo, T., Tomchick, D.R., Otomo, C., Machius, M., and Rosen, M.K. (2010). Crystal Structure of the Formin mDia1 in Autoinhibited Conformation. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012896"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold Protein Structure Database: Massively expanding the structural coverage of protein-sequence space with high-accuracy models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/cm.21033","article-title":"Structure and activity of full-length formin mDia1","volume":"69","author":"Maiti","year":"2012","journal-title":"Cytoskeleton"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.bbamcr.2009.07.006","article-title":"Formins and microtubules","volume":"1803","author":"Bartolini","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Schoen, C.J., Burmeister, M., and Lesperance, M.M. (2013). Diaphanous homolog 3 (Diap3) Overexpression Causes Progressive Hearing Loss and Inner Hair Cell Defects in a Transgenic Mouse Model of Human Deafness. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0056520"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"ENEURO.0295-16.2016","DOI":"10.1523\/ENEURO.0295-16.2016","article-title":"Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1","volume":"3","author":"Surel","year":"2016","journal-title":"eNeuro"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"D899","DOI":"10.1093\/nar\/gkaa1026","article-title":"FlyBase: Updates to the Drosophila melanogaster knowledge base","volume":"49","author":"Larkin","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_31","unstructured":"(2022, February 23). The Human Protein Atlas. Available online: https:\/\/www.proteinatlas.org\/."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/cge.12915","article-title":"Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)","volume":"91","author":"Neuhaus","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1038\/s41419-020-02743-z","article-title":"The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia","volume":"11","author":"Ninoyu","year":"2020","journal-title":"Cell Death Dis."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Hertzano, R., Elkon, R., Kurima, K., Morrisson, A., Chan, S.-L., Sallin, M., Biedlingmaier, A., Darling, D.S., Griffith, A.J., and Eisenman, D.J. (2011). Cell Type\u2013Specific Transcriptome Analysis Reveals a Major Role for Zeb1 and miR-200b in Mouse Inner Ear Morphogenesis. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002309"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1056\/NEJMoa1109122","article-title":"INF2Mutations in Charcot\u2013Marie\u2013Tooth Disease with Glomerulopathy","volume":"365","author":"Boyer","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1136\/jmg.2004.020628","article-title":"A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21","volume":"41","author":"Kim","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1126\/science.278.5341.1315","article-title":"Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous","volume":"278","author":"Lynch","year":"1997","journal-title":"Science"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1136\/jmedgenet-2013-101749","article-title":"Advancing genetic testing for deafness with genomic technology","volume":"50","author":"Shearer","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Iwasa, Y.-I., Nishio, S.-Y., and Usami, S.-I. (2016). Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0166781"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss","volume":"135","author":"Bierer","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1266\/ggs.16-00041","article-title":"A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss","volume":"91","author":"Kang","year":"2016","journal-title":"Genes Genet. Syst."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1111\/cge.13839","article-title":"Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing","volume":"98","author":"Brozkova","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_43","first-page":"363","article-title":"Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores","volume":"141","author":"Miyoshi","year":"2021","journal-title":"Qual. Life Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1182\/blood-2015-10-675629","article-title":"A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss","volume":"127","author":"Stritt","year":"2016","journal-title":"Blood"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1002\/ajmg.a.38411","article-title":"Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease","volume":"173","author":"Ganaha","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1159\/000506727","article-title":"DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss","volume":"144","author":"Karki","year":"2020","journal-title":"Acta Haematol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1182\/bloodadvances.2018020370","article-title":"Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder","volume":"2","author":"Westbury","year":"2018","journal-title":"Blood Adv."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","article-title":"Whole-genome sequencing of patients with rare diseases in a national health system","volume":"583","author":"Turro","year":"2020","journal-title":"Nature"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2320","DOI":"10.1021\/acs.biochem.1c00170","article-title":"Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1)","volume":"60","author":"Lakha","year":"2021","journal-title":"Biochemistry"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"109947","DOI":"10.1016\/j.ijporl.2020.109947","article-title":"A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family","volume":"133","author":"Wu","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_51","first-page":"165","article-title":"Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans","volume":"23","author":"Jambi","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_52","first-page":"435","article-title":"Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures","volume":"170","author":"Barry","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.jaci.2020.12.656","article-title":"Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction","volume":"148","author":"Kaustio","year":"2021","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"7565","DOI":"10.1158\/0008-5472.CAN-07-1467","article-title":"Myeloproliferative Defects following Targeting of the Drf1 Gene Encoding the Mammalian Diaphanous\u2013Related Formin mDia1","volume":"67","author":"Peng","year":"2007","journal-title":"Cancer Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"25152","DOI":"10.1074\/jbc.M703243200","article-title":"T Cell Responses in Mammalian Diaphanous-related Formin mDia1 Knock-out Mice","volume":"282","author":"Eisenmann","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1084\/jem.20062647","article-title":"Impaired T lymphocyte trafficking in mice deficient in an actin-nucleating protein, mDia1","volume":"204","author":"Sakata","year":"2007","journal-title":"J. Exp. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1006\/geno.1996.4542","article-title":"Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21","volume":"40","author":"Salaa","year":"1997","journal-title":"Genomics"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1086\/301761","article-title":"A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility","volume":"62","author":"Bione","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_59","first-page":"304","article-title":"Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure","volume":"107","author":"Marozzi","year":"2000","journal-title":"Qual. Life Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13039-015-0154-3","article-title":"Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation","volume":"8","author":"Genesio","year":"2015","journal-title":"Mol. Cytogenet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1093\/humrep\/dey389","article-title":"High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function","volume":"34","author":"Bestetti","year":"2019","journal-title":"Hum. Reprod."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"13396","DOI":"10.1073\/pnas.1003027107","article-title":"Increased activity of Diaphanous homolog 3 (DIAPH3)\/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila","volume":"107","author":"Schoen","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.otorri.2016.06.004","article-title":"Neuropat\u00eda auditiva autos\u00f3mica dominante y variante DIAPH3 (c.-173C>T)","volume":"68","year":"2017","journal-title":"Acta Otorrinolaringol. Esp."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/humu.22999","article-title":"DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System","volume":"37","author":"Sommen","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.gene.2013.02.057","article-title":"Genetic analysis of auditory neuropathy spectrum disorder in the Korean population","volume":"522","author":"Bae","year":"2013","journal-title":"Gene"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Lai, S.-L., Chan, T.-H., Lin, M.-J., Huang, W.-P., Lou, S.-W., and Lee, S.-J. (2008). Diaphanous-Related Formin 2 and Profilin I Are Required for Gastrulation Cell Movements. PLoS ONE, 3.","DOI":"10.1371\/journal.pone.0003439"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"13509","DOI":"10.1038\/ncomms13509","article-title":"Lack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors","volume":"7","author":"Damiani","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"e61974","DOI":"10.7554\/eLife.61974","article-title":"DIAPH3 deficiency links microtubules to mitotic errors, defective neurogenesis, and brain dysfunction","volume":"10","author":"Lau","year":"2021","journal-title":"eLife"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/mp.2010.26","article-title":"A double hit implicates DIAPH3 as an autism risk gene","volume":"16","author":"Vorstman","year":"2010","journal-title":"Mol. Psychiatry"},{"key":"ref_70","first-page":"481","article-title":"Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder","volume":"33","author":"Xie","year":"2016","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.ajhg.2018.08.006","article-title":"Genomic Landscape and Mutational Signatures of Deafness-Associated Genes","volume":"103","author":"Azaiez","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Ji, H., Lu, J., Wang, J., Li, H., and Lin, X. (2014). Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness. BMC Ear Nose Throat Disord., 14.","DOI":"10.1186\/1472-6815-14-9"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"22488","DOI":"10.1038\/s41598-021-01876-1","article-title":"Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss","volume":"11","author":"Pavlenkova","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ajmg.a.33798","article-title":"A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism","volume":"155","author":"Misceo","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_75","unstructured":"(2022, March 14). The Human Gene Mutation Database (HGMD). Available online: http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet. 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