Genetics of hearing impairment.
Our understanding of the genetics of hearing impairment (HI) has advanced rapidly during the last decade. In this review, we focus on HI due to single gene abnormalities, highlighting some of the more common causes of syndromic HI. We also outline the current state of knowledge of the genetics of non-syndromic HI. The most significant clinical advance has been the finding that mutations in GJB2 cause half of moderate-to-profound congenital hereditary deafness in many world populations. The implications of this finding for screening and genetic counseling are discussed.
Hone
S W
SW
Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA.
Smith
R J
RJ
D019280:Branchio-Oto-Renal Syndrome / Q000150:complications; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics; D014849:Waardenburg Syndrome / Q000235:genetics
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26