{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T06:15:09Z","timestamp":1751609709812,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ORL"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Background:<\/i><\/b> Dominant mutations in <i>MYO7A<\/i> may lead to nonsyndromic deafness DFNA11. A p.R206C variant in <i>MYO7A<\/i> has previously been reported in a small deaf family from Taiwan but with ambiguous pathogenicity and inheritance pattern. <b><i>Aims\/Objectives:<\/i><\/b> Our study aims to clarify the pathogenicity of this variant by clinical characterization and genetic analysis of a separate autosomal dominant deaf family harboring this variant in mainland China. <b><i>Materials and Methods:<\/i><\/b> Auditory features of hearing loss were characterized in representative affected family members. Mutation screening was performed by targeted next-generation sequencing of 138 known deafness genes in the proband. Candidate pathogenic mutations were confirmed by Sanger sequencing in family members and ethnically matched controls. <b><i>Results:<\/i><\/b> Consistent with typical DFNA11 phenotype, the affected family members in this study showed delayed-onset, progressive hearing loss affecting mostly high frequencies. Targeted next-generation sequencing identified a p.R206C mutation in <i>MYO7A<\/i> as the only candidate pathogenic mutation cosegregating with the hearing phenotype. This mutation is not seen in 200 Chinese Han normal-hearing controls. <b><i>Conclusions and Significance:<\/i><\/b> The recurrent p.R206C variant in <i>MYO7A<\/i> is pathogenic and is likely in a mutation hot spot or due to a founder effect. Reports of such rare variants in multiple patients or families may facilitate exploitation of its pathogenicity. <\/jats:p>","DOI":"10.1159\/000506208","type":"journal-article","created":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T21:00:34Z","timestamp":1589922034000},"page":"181-187","source":"Crossref","is-referenced-by-count":4,"title":["The p.R206C Mutation in <b><i>MYO7A<\/i><\/b> Leads to Autosomal Dominant Nonsyndromic Hearing Loss"],"prefix":"10.1159","volume":"82","author":[{"given":"Jiawen","family":"Lu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penghui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuanjie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,5,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.286.16.2000"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-85"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2012.01.004"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.6.849"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0489"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1126\/science.1198848"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4032"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.137.6.1287"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697-188"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/374060a0"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.02.009"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-268"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1080\/00016489.2017.1397743"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000091199"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1137-3"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0055178"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.147"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.228304"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9272"}],"container-title":["ORL"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:48:10Z","timestamp":1745423290000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000506208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,7,23]]},"published-print":{"date-parts":[[2020,7,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000506208","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.12326246","asserted-by":"subject"}]},"ISSN":["0301-1569","1423-0275"],"issn-type":[{"type":"print","value":"0301-1569"},{"type":"electronic","value":"1423-0275"}],"subject":[],"published":{"date-parts":[[2020]]}}}