ArticleJournal of medical genetics2026
Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.
Article in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
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5 authors.
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Abstract
backgroundThis study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant.
methodsA genotype distribution analysis was performed on 11 509 neonates identified as carriers of ≥1 pathogenic variant across four common deafness genes (
resultsAmong the 11 509 newborns carrying ≥1 pathogenic variant, two high-risk groups were identified: 653 newborns (5.67%) carrying biallelic pathogenic variants in
conclusionsOur data demonstrated that while genetic screening readily identifies infants with hereditary deafness susceptibility, newborn hearing screening fails to detect most of these high-risk cases due to the absence or delayed onset of HL. This gap obligates long-term audiological monitoring and highlights genetic testing's critical role in enabling early surveillance for later-onset HL.
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