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Mutation of POU domain class 4 transcription factor 3 <jats:italic>(POU4F3<\/jats:italic>) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15. In this study, four novel variants in <jats:italic>POU4F3<\/jats:italic>, c.696G&gt;T (p.Glu232Asp), c.325C&gt;T (p.His109Tyr), c.635T&gt;C (p.Leu212Pro), and c.183delG (p.Ala62Argfs<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mo>\u2217<\/mml:mo><\/mml:math>22), were identified in four different Chinese families with ADNSHL by targeted next-generation sequencing and Sanger sequencing. Based on the American College of Medical Genetics and Genomics guidelines, c.183delG (p.Ala62Argfs<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mo>\u2217<\/mml:mo><\/mml:math>22) is classified as a pathogenic variant, c.696G&gt;T (p.Glu232Asp) and c.635T&gt;C (p.Leu212Pro) are classified as likely pathogenic variants, and c.325C&gt;T (p.His109Tyr) is classified as a variant of uncertain significance. Based on previous reports and the results of this study, we speculated that <jats:italic>POU4F3<\/jats:italic> pathogenic variants are significant contributors to ADNSHL in the East Asian population. Therefore, screening of <jats:italic>POU4F3<\/jats:italic> should be a routine examination for the diagnosis of hereditary hearing loss.<\/jats:p>","DOI":"10.1155\/2020\/6137083","type":"journal-article","created":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T23:38:13Z","timestamp":1593646693000},"page":"1-12","source":"Crossref","is-referenced-by-count":8,"title":["Four Novel Variants in <i>POU4F3<\/i> Cause Autosomal Dominant Nonsyndromic Hearing Loss"],"prefix":"10.1155","volume":"2020","author":[{"given":"Tian-Yi","family":"Cui","sequence":"first","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, China"},{"name":"School of Basic Medical Sciences, Henan University, Kaifeng 475001, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# XinWai Da Jie, Beijing 100088, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sha-Sha","family":"Huang","sequence":"additional","affiliation":[{"name":"College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Yan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, Hebei 050000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si-Qi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, Hebei 050000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Xia","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, Hebei 050000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Zhong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, Hebei 050000, 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