Article
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Molecular medicine (Cambridge, Mass.) - 27 May 2025
Sklenar Marek, Borecka Silvia, Varga Lukas, Bernardinelli Emanuele, Stanik Juraj, Skopkova Martina, Sabo Miroslav, Ugorova Diana, Dossena Silvia, Gasperikova Daniela
Abstract excerpt
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...
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