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Clinical application of genetic testing for deafness
Author(s) -
Smith Richard J.H.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30053
Subject(s) - genetic testing , genetics , allele , mutation , biology , gene , hearing loss , computational biology , audiology , medicine
Abstract Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2 , SLC26A4 and WFS1 is reviewed. © 2004 Wiley‐Liss, Inc.