Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

ABSTRACT:

Background

The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndromic autosomal recessive hearing loss DFNB4 in EVA patients. In Caucasian cohorts, the genetic determinants of EVA remain unknown in approximately 50% of cases. We have recruited a cohort of 32 Austrian patients with hearing loss and EVA to define the prevalence and type of pathogenic sequence alterations in SLC26A4 and discover novel EVA-associated genes.

Methods

Sanger sequencing, single nucleotide polymorphism (SNP) assays, copy number variation (CNV) testing, and Exome Sequencing (ES) were employed for gene analy

SUBMITTER: Bernardinelli E 

PROVIDER: S-EPMC11929268 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature