Clinical application of genetic testing for deafness.
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.
Smith
Richard J H
RJ
Interdepartmental Genetics Program and Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA. richard-smith@uiowa.edu
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D000076988:Sulfate Transporters
D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; C114987:wolframin protein; D000072259:Connexin 26