title: Genetic causes of hearing loss.
abstract: In the past year, genes involved in the branchio-oto-renal and Treacher-Collins syndromes were cloned. Myosin 7A, a gene previously implicated in Usher syndrome type 1B, was also found to be mutated in non-syndromic hearing loss. Likewise, linkage studies in Pendred syndrome and Usher syndrome type 1D suggest that allelic mutations can cause syndromic and non-syndromic forms of deafness. In patients with X-linked deafness type 3, a hotspot for deletions was found 900 kb proximal to the causal gene POU3F4. Most importantly, the connexin 26 gene is mutated in approximately 50% of all recessive deafness families, enabling early diagnosis and carrier detection.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands. f.cremers@antrg.azn.nl
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D000818:Animals; D003638:Deafness / Q000209:etiology / Q000235:genetics*; D006801:Humans