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Those who are positive will be verified by Sanger sequencing, combined with family history, hearing test, and computerized tomography (CT) of the temporal bone, aiming to diagnose the enlarged vestibular aqueducts. Whole-exome sequencing were performed when necessary.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Our patient failed hearing screening on both sides twice, and EVA (&gt;\u20091.5\u00a0mm) was diagnosed by CT. This study has identified a novel missense mutation in the <jats:italic>SLC26A4<\/jats:italic> gene, c.2069T&gt;A, which in compound heterozygosity with c.1174A&gt;T is likely to be the cause of hearing loss. The novel heterozygous c.2069T&gt;A mutation of <jats:italic>SLC26A4<\/jats:italic> gene has been submitted to Clinvar with Variation ID 1,048,780.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our findings expand the gene mutation spectrum of <jats:italic>SLC26A4<\/jats:italic> and provide additional knowledge for diagnosis and genetic counseling associated with EVA-induced hearing loss.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01271-3","type":"journal-article","created":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T13:05:05Z","timestamp":1657285505000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts"],"prefix":"10.1186","volume":"15","author":[{"given":"Xiaohui","family":"He","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaozhi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yitong","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yintong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinwen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,7,8]]},"reference":[{"issue":"3","key":"1271_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.otc.2018.01.006","volume":"51","author":"CS Brown","year":"2018","unstructured":"Brown CS, et al. 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The studies involving human participants were reviewed and approved by Ethics Committee of Xi\u2019an People\u2019s Hospital (Xi\u2019an Fourth Hospital) (Xi\u2019an, China). Written informed consent to participate in this study was provided by the participants\u2019 legal guardian\/next of kin.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the individual(s), and minor(s)' legal guardian\/next of kin, for the publication of any potentially identifiable images or data included in this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"152"}}