{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T13:14:39Z","timestamp":1763644479600,"version":"3.41.2"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82160214","82360221"],"award-info":[{"award-number":["82160214","82360221"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["22JR11RA065"],"award-info":[{"award-number":["22JR11RA065"]}],"id":[{"id":"10.13039\/501100004775","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":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>MYO15A<\/jats:italic> is one of the common genes of severe\u2010to\u2010profound sensorineural deafness. Mutations in this gene can cause both pre\u2010 and post\u2010lingual hearing losses. In this study, a novel <jats:italic>MYO15A<\/jats:italic> variant (c.2482C&gt;T) was identified to be associated with autosomal recessive non\u2010syndromic hearing loss (ARNSHL) in a Chinese Uighur family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To examine the effects of the <jats:italic>MYO15A<\/jats:italic> mutation on the morphology and function of the derived hair cell\u2010like cells, two iPSCs were generated separately from the proband and a mutation\u2010negative family member and those were then induced to hair cell\u2010like cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Results showed that this homozygous <jats:italic>MYO15A<\/jats:italic> mutation (PVS1\u2009+\u2009PM2\u2009+\u2009PP1\u2009+\u2009PP3), which is located in the N\u2010terminal domain, displayed significant differences in the morphology and function of hair cell\u2010like cells between the proband and the normal control, although it had no effect on the totipotency of iPSCs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study demonstrates that the novel variant c.2482C&gt;T in the <jats:italic>MYO15A<\/jats:italic> gene may cause inner ear hair cell dysfunction and audiological disorders in this family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70042","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T12:39:22Z","timestamp":1733143162000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Mutation Located in the N\u2010Terminal Domain of <scp>MYO15A<\/scp> Caused Sensorineural Hearing Loss"],"prefix":"10.1002","volume":"12","author":[{"given":"Yanli","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Lanzhou University Second Hospital  Lanzhou Gansu 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