{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T18:52:53Z","timestamp":1759776773238,"version":"3.41.2"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012678","name":"Young Teacher Foundation of Sun Yat-sen University","doi-asserted-by":"publisher","award":["20ykpy54"],"award-info":[{"award-number":["20ykpy54"]}],"id":[{"id":"10.13039\/501100012678","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007162","name":"Guangdong Science and Technology Department","doi-asserted-by":"publisher","award":["2019A050509006"],"award-info":[{"award-number":["2019A050509006"]}],"id":[{"id":"10.13039\/501100007162","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":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Many hearing\u2010impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions\/genes screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected clinical and genetic data from subjects with hearing loss who visited our department for genetic counseling. Next\u2010generation sequencing was conducted after 154 deafness\u2010related genes were captured using a designed genes panels in 14 unrelated families (37 participants). The results were filtered and assessed with in silico tools, in combination with pedigree mapping.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ten mutations in regular deafness genes (<jats:italic>GJB2<\/jats:italic>, <jats:italic>SLC26A4<\/jats:italic>) and uncommon genes (<jats:italic>OTOF<\/jats:italic>, <jats:italic>MYO7A<\/jats:italic>, <jats:italic>MYO15A<\/jats:italic>, and <jats:italic>KARS<\/jats:italic>) were detected, which constituted 57.2% of yielded rate. In particular, two patients with nonsyndromic deafness carried biallelic <jats:italic>KARS<\/jats:italic> mutations. In addition, we identified an unreported digenic mutational inheritance in <jats:italic>GRP98<\/jats:italic>\/<jats:italic>USH2A<\/jats:italic> genes in a proband with isolated hearing loss. Functional analyses and molecular modeling suggested the damaging consequence of these variants on encoded proteins. According to the variant pathogenicity guidelines, the 17 identified variants in total were classified as \u201cpathogenic\u201d or \u201clikely pathogenic.\u201d<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The candidate mutations in deafness genes were suggested to be co\u2010segregated in at least 57.2% of the studied pedigrees. This is the new report of rare\/novel mutations causing inherited hearing loss in Chinese.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1887","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T06:33:47Z","timestamp":1643783627000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Report of rare and novel mutations in candidate genes in a cohort of hearing\u2010impaired patients"],"prefix":"10.1002","volume":"10","author":[{"given":"Min","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, The First Affiliated Hospital Sun Yat\u2010sen University and Institute of Otorhinolaryngology, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, The First Affiliated Hospital Sun Yat\u2010sen 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