title: Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
abstract: Since the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene.
authors.affiliation: Department of Otolaryngology, Osaka University Medical School, Suita, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fuse
authors.forename: K
authors.initials: K
authors.lastname: Doi
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: A
authors.initials: A
authors.lastname: Sugii
authors.forename: H
authors.initials: H
authors.lastname: Hibino
authors.forename: T
authors.initials: T
authors.lastname: Kubo
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D018388:Codon, Terminator; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D018388:Codon, Terminator; D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26