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Article

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Journal of medical genetics - 25 May 2026

Li Jianjun, Zhan Zijun, Zhang Xiao, Wu Bo, Liu Wenlan

Abstract excerpt

BACKGROUND: This 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. METHODS: A genotype distribution analysis was performed on 11 509 neonates identified as carriers of ≥1 pathogenic variant across four common deafness genes (GJB2, SLC26A4, MT-RNR1 and GJB3) at our centre between January...

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Source

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Identifiers

PMID: 41876127
DOI: 10.1136/jmg-2025-111135
PMCID: PMC13217119

Genes

GJB2
GJB3
SLC26A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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