IMR Press / FBL / Volume 17 / Issue 6 / DOI: 10.2741/4046

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
Autosomal recessive nonsyndromic deafness genes: a review
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1 Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey
2 Department of Human Genetics and Institute for Human Genomics, 1501 NW 10th Avenue, Miami, FL, 33136, USA

Academic Editor: Haris Kokotas

Front. Biosci. (Landmark Ed) 2012, 17(6), 2213–2236; https://doi.org/10.2741/4046
Published: 1 June 2012
(This article belongs to the Special Issue Molecular genetics of sensorineural hearing loss)
Abstract

More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.

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