{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T06:11:56Z","timestamp":1778479916024,"version":"3.51.4"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100007225","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["\u0110T\u0110L.CN.36\/21"],"award-info":[{"award-number":["\u0110T\u0110L.CN.36\/21"]}],"id":[{"id":"10.13039\/100007225","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital hearing loss (HL) in the Vietnamese population remains understudied despite its genetic diversity, limiting our understanding of its genetic etiology and hindering the development of effective, population-specific diagnostic strategies. In this descriptive cross-sectional whole-exome sequencing study, we enrolled 150 children with congenital non-syndromic HL (NSHL) from hospitals and hearing centers across Northern, Central, and Southern Vietnam to describe the genetic landscape of HL and provide new insights into rare and HL-associated variants. Clinical variant annotation was performed for 1589 deafness-associated genes, focusing on pathogenic, likely pathogenic, and variants of uncertain significance. Genetic factors strongly associated with NSHL accounted for 7.33% (11 of 150) of moderate-to-profound HL cases, involving both autosomal dominant and autosomal recessive inheritance patterns. Four variants across three genes were identified, namely GJB2:c.235del (p.L79CfsTer3), GJB2:c.109G\u2009&amp;gt;\u2009A (p.V37I), COCH:c.538C\u2009&amp;gt;\u2009T (p.R180Ter), and MYO6:c.2751dup (p.Q918TfsTer24). Two of these variants demonstrated a trend toward disease enrichment within the cohort, with the highest minor allele frequency (MAF) observed in GJB2:c.109G\u2009&amp;gt;\u2009A at 11%, followed by MYO6:c.2751dup at 2%. Although GJB2:c.235del showed a relatively high MAF of 1.3%, the observed minor alleles did not differ significantly from those in the East Asian and KHV control populations. These findings reveal distinct clinical and molecular profiles of congenital HL, providing essential knowledge for the development of targeted screening and diagnostic strategies tailored to the Vietnamese pediatric population.<\/jats:p>","DOI":"10.1093\/hmg\/ddag027","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:44:00Z","timestamp":1774529040000},"source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive clinical and genetic profiling of Vietnamese pediatric hearing loss: a multi-region exome sequencing study"],"prefix":"10.1093","volume":"35","author":[{"given":"Nguyen Cong","family":"Hoang","sequence":"first","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7292-187X","authenticated-orcid":false,"given":"Duc-Minh","family":"Nguyen-Le","sequence":"additional","affiliation":[{"name":"Institute for Applied Research in Health Sciences and Aging (ARiHA) - Thong Nhat Hospital , Ly Thuong Kiet street, Tan Son Nhat ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huyen-Trang Thi","family":"Tran","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh Tra","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manh Hung","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dai-Phu","family":"Ngo","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giau","family":"Le","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoang-Kim","family":"Van-Ho","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gia Huy","family":"Ha","sequence":"additional","affiliation":[{"name":"Precision Gene Joint Stock Company , Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tran Trung","family":"Anh","sequence":"additional","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viet","family":"Hoang","sequence":"additional","affiliation":[{"name":"Institute for Excellence in Education and Research - Thai Nguyen University , Bac Son street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Le Thi Huong","family":"Lan","sequence":"additional","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Minh","family":"Tuan","sequence":"additional","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dao Minh","family":"Nguyet","sequence":"additional","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bui Bang","family":"Giang","sequence":"additional","affiliation":[{"name":"Thai Nguyen National Hospital , Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Le Dinh","family":"Thanh","sequence":"additional","affiliation":[{"name":"Institute for Applied Research in Health Sciences and Aging (ARiHA) - Thong Nhat Hospital , Ly Thuong Kiet street, Tan Son Nhat ward, Ho Chi Minh city 700000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phu Hung","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute for Excellence in Education and Research - Thai Nguyen University , Bac Son street, Phan Dinh Phung ward, Thai Nguyen province 24000 ,","place":["Vietnam"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8045-718X","authenticated-orcid":false,"given":"Phuc-Loi","family":"Luu","sequence":"additional","affiliation":[{"name":"Institute for Applied Research in Health Sciences and Aging (ARiHA) - Thong Nhat Hospital , Ly Thuong Kiet street, Tan Son Nhat ward, Ho 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