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Genetics of hearing loss: focus on DFNA2

Authors Dominguez, Dodson K

Received 1 July 2012

Accepted for publication 17 August 2012

Published 18 October 2012 Volume 2012:5 Pages 97—104

DOI https://doi.org/10.2147/TACG.S35525

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2


Laura M Dominguez, Kelley M Dodson

Department of Otolaryngology, Head and Neck Surgery, Virginia Commonwealth University, Richmond, VA

Abstract: The purpose of this review is to assess the current literature on deafness nonsyndromic autosomal dominant 2 (DFNA2) hearing loss and the mutations linked to this disorder. Hearing impairment, particularly nonsyndromic hearing loss, affects multiple families across the world. After the identification of the DFNA2 locus on chromosome 1p34, multiple pathogenic mutations in two genes (GJB3 and KCNQ4) have been reported. The overwhelming majority of pathogenic mutations linked to this form of nonsyndromic hearing loss have been identified in the KCNQ4 gene encoding a voltage-gated potassium channel. It is believed that KCNQ4 channels are present in outer hair cells and possibly inner hair cells and the central auditory pathway. This form of hearing loss is both phenotypically and genetically heterogeneous and there are still DFNA2 pedigrees that have not been associated with changes in either GJB3 or KCNQ4, suggesting that a possible third gene exists at this locus. Further studies of the DFNA2 locus will lead to a better understanding of progressive hearing loss and provide a better means of early detection and treatment.

Keywords: deafness nonsyndromic autosomal dominant 2, nonsyndromic deafness, genetic hearing loss, GJB3, KCNQ4

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