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Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.

Human genetics - 1 Jan 2023

Xiang Jiale, Sun Xiangzhong, Song Nana, Ramaswamy Sathishkumar, Abou Tayoun Ahmad N, Peng Zhiyu

Abstract excerpt

Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of this study was to delineate the genetic and phenotypic landscape of GJB2 SNV variants. All possible single-nucleotide substitution variants of the coding region of GJB2 (N = 2043) were manually curated following the ACMG/AMP hearing loss guidelines. As a result, 60 (2.9%), 177 (8.7%), 1499...

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Mutation, Missense
Connexin 26
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Deafness
Hearing Loss

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PMID: 36048236
DOI: 10.1007/s00439-022-02479-0

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