IMR Press / FBL / Volume 16 / Issue 9 / DOI: 10.2741/3910

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment
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1 Unidad de Genetica Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain
2 Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
Academic Editor:Haris Kokotas
Front. Biosci. (Landmark Ed) 2011, 16(9), 3252–3274; https://doi.org/10.2741/3910
Published: 1 June 2011
(This article belongs to the Special Issue Molecular genetics of sensorineural hearing loss)
Abstract

Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of this gene. GJB2 encodes connexin-26, a protein component of intercellular gap junctions, which play crucial physiological roles in the cochlea. Because of its high frequency, DFNB1 hearing impairment has received continued attention from researchers along the years, resulting in a wealth of data that is unparalleled among these disorders. Here we review our current knowledge on the genetic, molecular, and phenotypic aspects of this subtype of hearing impairment.

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