Autosomal Recessive Nonsyndromic Hearing Impairment: an Overview

Abstract

The last few years have seen major advances in our understanding of the genetic causes of childhood onset hearing impairment. Twenty-eight separate non-syndromic recessive loci have been reported and already 12 of these genes have been identified. In some cases mutations in these genes can also cause dominant or syndromic forms of hearing impairment. Most of the genes thus far identified encode proteins involved in the structure or maintenance of the inner ear, particularly of hair cells, or maintaining ionic balances within the inner ear. This review discusses our current understanding of these genes and their proposed functions and the implications of these findings for individuals with autosomal recessive non-syndromic hearing impairment. As our understanding of the genetics of childhood deafness continues to grow the potential for identification of the genetic defect in inherited deafness becomes a reality. Genetic testing for deafness seems likely to become part of routine clinical practice and may eventually lead to therapies for the treatment of prevention of deafness.

• Genetic
• Hearing Impairment
• Non-syndromic