The genetics of deafness

Mental Retardation and Developmental Disabilities Research Reviews
Walter E Nance

Abstract

Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic deafness. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing, as well as many unexpected surprises. Although a large number of genes can clearly cause deafness, recessive mutations at a single locus, GJB2 or Connexin 26, account for more than half of all genetic cases in some, but not all populations. The high frequency may well be related to the greatly improved social, educational, and economic circumstances of the deaf that began with the introduction of sign language 300-400 years ago, along with a high frequency of marriages among the deaf in many countries. Similar mechanisms may account for the rapid fixation of genes for speech after the first mutations appeared 50,000-100,000 years ago. Molecular studies have shown that mutations involving several different loci may be the cause...Continue Reading

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Related Concepts

GJB2 gene
Aminoglycosides
Antibiotic throat preparations
GJB6 gene
Antifungal Antibiotics, Topical
Gene Deletion Abnormality
Sample Fixation
Connexins
Congenital Deafness
Genetic Inheritance

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