{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T18:02:40Z","timestamp":1785175360770,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81460097"],"award-info":[{"award-number":["81460097"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81960186"],"award-info":[{"award-number":["81960186"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004607","name":"Natural Science Foundation of Guangxi Province","doi-asserted-by":"publisher","award":["2017GXNSFAA198013"],"award-info":[{"award-number":["2017GXNSFAA198013"]}],"id":[{"id":"10.13039\/501100004607","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the <jats:italic>SLC26A4<\/jats:italic> gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected blood samples and clinical data from a pair of deaf twin sisters with EVA and their family members. As controls, a group of 500 normal\u2010hearing people were enrolled in our study. Twenty\u2010one exons and flanking splice sites of the <jats:italic>SLC26A4<\/jats:italic> gene were screened for pathogenic mutations by polymerase chain reaction and bidirectional Sanger sequencing. Minigene assays were used to verify whether the novel <jats:italic>SLC26A4<\/jats:italic> intronic mutation influenced the normal splicing of mRNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Hearing loss in the twins with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.919\u20102A&gt;G and c.1614+5G&gt;A were detected in <jats:italic>SLC26A4<\/jats:italic>, the latter of which has not been reported in the literature. The minigene expression <jats:italic>in vitro<\/jats:italic> confirmed that c.1614+5G&gt;A could cause aberrant splicing, resulting in skipping over exon 14.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>On the <jats:italic>SLC26A4<\/jats:italic> gene, c.1614+5G&gt;A is a pathogenic mutation. This finding enriches the mutational spectrum of the <jats:italic>SLC26A4<\/jats:italic> gene and provides a basis for the genetic diagnosis of EVA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1447","type":"journal-article","created":{"date-parts":[[2020,8,8]],"date-time":"2020-08-08T06:00:33Z","timestamp":1596866433000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel <i>SLC26A4<\/i> splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4383-4254","authenticated-orcid":false,"given":"Kai","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Otolaryngology &amp; Head and Neck The People's Hospital of Guangxi Zhuang Autonomous Region Nanning China"},{"name":"Guangxi Medical University Nanning Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lancheng","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology &amp; Head and Neck The People's Hospital of Guangxi Zhuang Autonomous Region Nanning China"},{"name":"Guangxi Medical University Nanning Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menglong","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology &amp; Head and Neck The People's Hospital of Guangxi Zhuang Autonomous Region Nanning China"},{"name":"Guangxi University of Chinese Medicine Nanning Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7307-9309","authenticated-orcid":false,"given":"Xinlei","family":"Li","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Southwest Hospital Army Medical University (Third Military Medical University) Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhao","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Southwest Hospital Army Medical University (Third Military Medical University) Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Liu","sequence":"additional","affiliation":[{"name":"Research Center of Medical Sciences The People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiazhang","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology &amp; 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