{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T02:33:37Z","timestamp":1769135617041,"version":"3.49.0"},"reference-count":0,"publisher":"Caleo","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Int Adv Otol."],"abstract":"<jats:p>Congenital hearing loss is one of the prevalent birth defects, with approximately 60% of cases attributed to genetic factors. Genetic hearing lossis broadly classified into syndromic and non-syndromic forms, with non-syndromic hearing loss accounting for 70% of cases. MYO15A mutationsare known to cause autosomal recessive non-syndromic hearing loss (ARNSHL), while MT-RNR1 mutations follow a maternal inheritance patternand are linked to aminoglycoside-induced hearing loss. In this study, a family with diverse manifestations of non-syndromic hearing loss wasinvestigated, including aminoglycoside-induced, congenital profound, and post-lingual profound hearing loss. Through whole exome sequencing, distinct genetic etiologies responsible for hearing loss in affected family members were identified. This is the first report to document theco-occurrence of a compound heterozygous MYO15A mutation alongside an MT-RNR1 mutation within a pedigree. Additionally, it is the first observation of both a homozygous MYO15A c.6956+9C&gt;G mutation and compound heterozygous MYO15A mutations (c.[6956+9C&gt;G]+[4898T&gt;C]) inARNSHL. These findings broaden the genotype-phenotype spectrum of MYO15A and highlight the critical role of genetic diagnosis in managinghearing loss.<\/jats:p>","DOI":"10.5152\/iao.2025.241817","type":"journal-article","created":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T07:42:42Z","timestamp":1759131762000},"page":"1-5","source":"Crossref","is-referenced-by-count":0,"title":["Simultaneous MT-RNR1 and MYO15A Mutations in a Family with Non-Syndromic Hearing Loss"],"prefix":"10.65717","volume":"21","author":[{"family":"Yiyuan Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Run Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Ying Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Tianyu Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Jing Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"55248","published-online":{"date-parts":[[2025,9,29]]},"container-title":["The Journal of International Advanced Otology"],"original-title":[],"link":[{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/download\/1921\/1912","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/download\/1921\/1912","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T09:43:51Z","timestamp":1769075031000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/view\/1921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,29]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,9,4]]}},"URL":"https:\/\/doi.org\/10.5152\/iao.2025.241817","relation":{},"ISSN":["2148-3817"],"issn-type":[{"value":"2148-3817","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,29]]}}}