Comprehensive clinical and genetic profiling of Vietnamese pediatric hearing loss: a multi-region exome sequencing study.
| Title: | Comprehensive clinical and genetic profiling of Vietnamese pediatric hearing loss: a multi-region exome sequencing study. |
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| Authors: | Hoang NC; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Nguyen-Le DM; 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, Vietnam.; Tran HT; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Nguyen TT; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Nguyen MH; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Ngo DP; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Le G; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Van-Ho HK; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Ha GH; Precision Gene Joint Stock Company, Lac Long Quan street, Hoa Binh ward, Ho Chi Minh city 700000, Vietnam.; Anh TT; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Hoang V; Institute for Excellence in Education and Research - Thai Nguyen University, Bac Son street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Lan LTH; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Tuan NM; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Nguyet DM; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Giang BB; Thai Nguyen National Hospital, Luong Ngoc Quyen street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Thanh LD; 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, Vietnam.; Nguyen PH; Institute for Excellence in Education and Research - Thai Nguyen University, Bac Son street, Phan Dinh Phung ward, Thai Nguyen province 24000, Vietnam.; Luu PL; 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, Vietnam. |
| Source: | Human molecular genetics [Hum Mol Genet] 2026 Mar 23; Vol. 35 (6). |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992- |
| MeSH Terms: | Hearing Loss*/genetics ; Hearing Loss*/epidemiology; Vietnam/epidemiology ; Exome Sequencing/methods ; Connexin 26/genetics ; Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; Cross-Sectional Studies ; Genetic Predisposition to Disease ; Genetic Profile ; Mutation ; Adolescent ; Southeast Asian People |
| Abstract: | 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 > A (p.V37I), COCH:c.538C > T (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 > A 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.; (© The Author(s) 2026. Published by Oxford University Press. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.) |
| Grant Information: | ĐTĐL.CN.36/21 Ministry of Science and Technology |
| Contributed Indexing: | Keywords: Congenital; Congenital Hearing Loss; Genetic Diseases; Hereditary; Inborn; Population Studies; Whole Exome Sequencing; and Neonatal Diseases and Abnormalities |
| Substance Nomenclature: | 127120-53-0 (Connexin 26); 0 (GJB2 protein, human) |
| Entry Date(s): | Date Created: 20260409 Date Completed: 20260409 Latest Revision: 20260409 |
| Update Code: | 20260410 |
| DOI: | 10.1093/hmg/ddag027 |
| PMID: | 41955303 |
| Database: | MEDLINE |
Journal Article