title: Clinical application of genetic testing for deafness.
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.
authors.affiliation: Interdepartmental Genetics Program and Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA. richard-smith@uiowa.edu
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: 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
chemical_list: 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