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 hea...

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Bibliographic Details

Published in:	Molecular Medicine
Main Authors:	Emanuele Bernardinelli, Raffaella Liuni, Rapolas Jamontas, Paola Tesolin, Anna Morgan, Giorgia Girotto, Sebastian Roesch, Silvia Dossena
Format:	Article
Language:	English
Published:	BMC 2025-03-01
Subjects:	Enlarged vestibular aqueduct Hearing loss Pathogenic variants SLC26A4 TJP2
Online Access:	https://doi.org/10.1186/s10020-025-01159-9