Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

ABSTRACT:

Background

Genetic testing is essential to the diagnosis of nonsyndromic bilateral sensorineural hearing loss (BSNHL), where pathogenic variants in GJB2 are the most common cause. Current testing strategies often fail to provide a comprehensive diagnosis and typically require the use of multiple testing methodologies. This study evaluated the diagnostic utility of genome sequencing (GS) in a cohort with heterozygosity for GJB2 pathogenic variants and BSNHL.

Methods

A retrospective cohort of 23 individuals with BSNHL and a heterozygous pathogenic variant in GJB2 underwent targeted GJB2 resequencing and variant reinterpretation. Those without biallelic GJB2 variants upon single gene reanalysis proceeded to exome sequencing (ES) using a large

SUBMITTER: Rentas S 

PROVIDER: S-EPMC12685424 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature