title: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
abstract: Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of the cases of profound early-onset deafness are caused by genetic factors. Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown to cause hearing loss. Mutations in the gene encoding connexin 26 (GJB2) cause both autosomal recessive and dominant forms of hearing impairment. To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR. GJB3 was mapped to human chromosome 1p33-p35. Mutation analysis revealed that a missense mutation and a nonsense mutation of GJB3 were associated with high-frequency hearing loss in two families. Moreover, expression of Gjb3 was identified in rat inner ear tissue by RT-PCR. These findings suggest that mutations in GJB3 may be responsible for bilateral high-frequency hearing impairment.
authors.affiliation: National Lab of Medical Genetics of China, Changsha, Hunan, PRC. nlmglcy@public.cs.hn.cn
authors.forename: J H
authors.initials: JH
authors.lastname: Xia
authors.forename: C Y
authors.initials: CY
authors.lastname: Liu
authors.forename: B S
authors.initials: BS
authors.lastname: Tang
authors.forename: Q
authors.initials: Q
authors.lastname: Pan
authors.forename: L
authors.initials: L
authors.lastname: Huang
authors.forename: H P
authors.initials: HP
authors.lastname: Dai
authors.forename: B R
authors.initials: BR
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Xie
authors.forename: D X
authors.initials: DX
authors.lastname: Hu
authors.forename: D
authors.initials: D
authors.lastname: Zheng
authors.forename: X L
authors.initials: XL
authors.lastname: Shi
authors.forename: D A
authors.initials: DA
authors.lastname: Wang
authors.forename: K
authors.initials: K
authors.lastname: Xia
authors.forename: K P
authors.initials: KP
authors.lastname: Yu
authors.forename: X D
authors.initials: XD
authors.lastname: Liao
authors.forename: Y
authors.initials: Y
authors.lastname: Feng
authors.forename: Y F
authors.initials: YF
authors.lastname: Yang
authors.forename: J Y
authors.initials: JY
authors.lastname: Xiao
authors.forename: D H
authors.initials: DH
authors.lastname: Xie
authors.forename: J Z
authors.initials: JZ
authors.lastname: Huang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid
chemical_list: D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human