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Article

Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26).

PloS one - 1 Jan 2024

Teryutin Fedor M, Pshennikova Vera G, Solovyev Aisen V, Romanov Georgii P, Fedorova Sardana A, Barashkov Nikolay A

Abstract excerpt

The audiological features of hearing loss (HL) in patients with autosomal recessive deafness type 1A (DFNB1A) caused by splice site variants of the GJB2 gene are less studied than those of patients with other variants of this gene. In this study, we present the audiological features of DFNB1A in a large cohort of 134 patients with the homozygous splice site variant c.-23+1G>A and 34 patients with other biallelic...

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Identifiers

PMID: 39436953
DOI: 10.1371/journal.pone.0309439
PMCID: PMC11495561

Genes

GJB2

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