{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T20:20:42Z","timestamp":1767990042426,"version":"3.49.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Hearing loss affecting about 2\/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for <jats:italic>GJB2, SLC26A4<\/jats:italic>, and mitochondrial 12S rRNA. The probands of each family were performed whole-exome sequencing (WES) or targeted next-generation sequencing (NGS) for known deafness genes to study for pathogenic causes. We found four novel mutations of <jats:italic>CDH23<\/jats:italic>, one novel mutation of <jats:italic>MYO15A<\/jats:italic>, one novel mutation of <jats:italic>TMC1<\/jats:italic>, one novel mutation of <jats:italic>PAX3<\/jats:italic>, and one novel mutation of <jats:italic>ADGRV1<\/jats:italic>, one novel CNV of <jats:italic>ADGRV1<\/jats:italic>, and one novel CNV of <jats:italic>STRC<\/jats:italic>. Hearing loss is a highly hereditary and heterogeneous disease. The results in the limited samples of this study show that Usher and Waardenburg syndrome-related genes account for a major proportion are strongly associated with Chinese Han hearing loss patients negative for <jats:italic>GJB2, SLC26A4<\/jats:italic>, and mitochondrial 12S rRNA, followed by <jats:italic>STRC<\/jats:italic> resulting in mild to moderate deafness.<\/jats:p>","DOI":"10.3389\/fneur.2022.1048218","type":"journal-article","created":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T13:22:56Z","timestamp":1669209776000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular etiology study of hearing loss in 13 Chinese Han 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