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

Abstract excerpt

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%...

Topics

• Humans
• Vestibular Aqueduct
• Sulfate Transporters
• Male
• Female
• Polymorphism, Single Nucleotide