Comprehensive clinical and genetic profiling of Vietnamese pediatric hearing loss: a multi-region exome sequencing study.
Level 4 - case-series / case-control
Descriptive cross-sectional case series characterizing genetic variants in a patient cohort
PubMed 41955303 · doi:10.1093/hmg/ddag027
What was done
Whole-exome sequencing and clinical variant annotation across 1,589 deafness-associated genes were performed on 150 Vietnamese children with congenital non-syndromic hearing loss (NSHL) recruited from hospitals and hearing centers across Northern, Central, and Southern Vietnam. Pathogenic, likely pathogenic, and uncertain-significance variants were evaluated.
What was found
Genetic factors strongly associated with moderate-to-profound NSHL accounted for 7.33% of cases (11 of 150), involving autosomal dominant and autosomal recessive inheritance. Four variants across three genes were identified: GJB2:c.235del (minor allele frequency [MAF] 1.3%, not significantly different from East Asian/KHV controls), GJB2:c.109G>A (MAF 11%), COCH:c.538C>T, and MYO6:c.2751dup (MAF 2%).
Why it matters
This study provides baseline molecular epidemiology for congenital hearing loss in Vietnam, identifying key recurrent variants (in GJB2, COCH, and MYO6) to guide targeted screening and diagnostic strategies for Vietnamese pediatric populations.
Limits
The diagnostic yield was low (7.33%), leaving over 92% of cases without an identified genetic cause in the evaluated genes. The sample size of 150 participants is modest, limiting detection of rare private variants. The abstract does not report family segregation testing or non-genetic etiology assessments.
Cited by
- supports More than 200 distinct genes have been identified as causes of human hearing loss.