Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

ABSTRACT:

Background

Pathogenic variants in the SLC26A4 gene, encoding for Cl^-/HCO₃^- and I^- anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population, up to 75% of patients fail to identify a genetic cause through biallelic mutations in the SLC26A4 gene. The CEVA haplotype could therefore play an important role in the diagnostics of NSEVA. The aim of the study was to determine the genetic etiology of hearing loss with EVA or with fully developed PDS in 37 probands and the functional characterization of novel variants identified in the SLC26A4 gene.

Methods

To determine the genetic etiology, Sanger sequencing, WES and KASP genotyp

SUBMITTER: Sklenar M 

PROVIDER: S-EPMC12107780 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature