Atualization in genetics of nonsyndromic hereditary deafness

Abstract

Nonsyndromic hereditary deafness is a highly heterogeneous condition. Many different genes from many loci have been shown to influence the development and function of hearing. Here we present a review on the genetics and molecular biology of hearing loss. There exist about 30 different autosomal loci
related to recessive hearing loss, 40 dominant loci, eight X-linked loci; five different mitochondrial mutations have been already described. 80% of hereditary nonsyndromic hearing loss is produced by recessive mechanism
and one specific mutation, 35delG, in the Conexin 26 gene, is the most frequent cause of congenital neurosensorial hearing loss. An increasing number of publications report cases of inherited hearing loss due to mitochondrial mutations; the most frequent of which is known as A1555G. In many families, hearing loss is associated to the use of aminoglicosidic antibiotics. Recent advances in molecular biology of hearing loss suggest that the screening of the frequent mutations in deaf populations should be considered.