title: Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
abstract: Mutations in connexin 26 are responsible for approximately 20% of genetic hearing loss and 10% of all childhood hearing loss. However, only about 75% of the mutations predicted to be in Cx26 are actually observed. While this may be due to mutations in noncoding regulatory regions, an alternative hypothesis is that some cases may be due to mutations in another gene immediately adjacent to Cx26. Another gap junction gene, connexin 30 (HGMW-approved symbol GJB6), is found to lie on the same PAC clone that hybridizes to chromosome 13q12. Human connexin 26 and connexin 30 are expressed in the same cells of the cochlea. Cx26 and Cx30 share 77% identity in amino acid sequence but Cx30 has an additional 37 amino acids at its C-terminus. These considerations led us to hypothesize that mutations in Cx30 might also be responsible for hearing loss. Eight-eight recessive nonsyndromic hearing loss families from both American and Japanese populations were screened for mutations. In addition, 23 dominant hearing loss families and 6 singleton families presumed to be recessive were tested. No significant mutation has been found in the dominant or recessive families.
authors.affiliation: Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. kelley@boystown.org
authors.forename: P M
authors.initials: PM
authors.lastname: Kelley
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: J W
authors.initials: JW
authors.lastname: Askew
authors.forename: S D
authors.initials: SD
authors.lastname: Smith
authors.forename: S i
authors.initials: Si
authors.lastname: Usami
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002645:Chickens; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003001:Cloning, Molecular; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000096:biosynthesis / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics*; D009928:Organ Specificity / Q000235:genetics
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; C100629:Gjb6 protein, mouse; D009419:Nerve Tissue Proteins; D000072259:Connexin 26