title: De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
abstract: Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hearing impairment and keratoderma. We have identified the first de novo mutation of the Cx26 gene, R75 W, in a sporadic case of isolated profound hearing loss. R75 W has been previously observed in association with hearing impairment and keratoderma in one family and is thus thought to cause both syndromic and non-syndromic hearing loss. This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at
authors.forename: A R
authors.initials: AR
authors.lastname: Janecke
authors.forename: D
authors.initials: D
authors.lastname: Nekahm
authors.forename: J
authors.initials: J
authors.lastname: Löffler
authors.forename: A
authors.initials: A
authors.lastname: Hirst-Stadlmann
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: G
authors.initials: G
authors.lastname: Utermann
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA