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This significantly hampers the progress toward establishing an effective genetic screening method and early customized rehabilitation modalities for hearing loss. In this study, we evaluated the genetic profile of severe-to-profound hearing loss in a Vietnamese pediatric population using a hierarchical genetic analysis protocol that screened 11 known deafness-causing variants, followed by massively parallel sequencing targeting 129 deafness-associated genes. Eighty-seven children with isolated severe-to-profound non-syndromic hearing loss without family history were included. The overall molecular diagnostic yield was estimated to be 31.7%. The mutational spectrum for severe-to-profound non-syndromic hearing loss in our Vietnamese population was unique: The most prevalent variants resided in the <jats:italic>MYO15A<\/jats:italic> gene (7.2%), followed by <jats:italic>GJB2<\/jats:italic> (6.9%), <jats:italic>MYO7A<\/jats:italic> (5.5%), <jats:italic>SLC26A4<\/jats:italic> (4.6%), <jats:italic>TMC1<\/jats:italic> (1.8%), <jats:italic>ESPN<\/jats:italic> (1.8%), <jats:italic>POU3F4<\/jats:italic> (1.8%), <jats:italic>MYH14<\/jats:italic> (1.8%), <jats:italic>EYA1<\/jats:italic> (1.8%), and <jats:italic>MR-RNR1<\/jats:italic> (1.1%). The unique spectrum of causative genes in the Vietnamese deaf population was similar to that in the southern Chinese deaf population. It is our hope that the mutation spectrum provided here could aid in establishing an efficient protocol for genetic analysis of severe-to-profound hearing loss and a customized screening kit for the Vietnamese population.<\/jats:p>","DOI":"10.1038\/s41598-018-38245-4","type":"journal-article","created":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T11:05:41Z","timestamp":1549537541000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population"],"prefix":"10.1038","volume":"9","author":[{"given":"Jae Joon","family":"Han","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pham Dinh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doo-Yi","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Hee","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah-Reum","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye-Rim","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lam Huyen","family":"Tran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Huu","family":"Dung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ja-Won","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Ho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung Ha","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang","family":"Anh Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Yoon","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,2,7]]},"reference":[{"key":"38245_CR1","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton, C. 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