title: Connexin26 deafness in several interconnected families.
abstract: Mutations in the connexin26 gene are the basis of much autosomal recessive sensorineural deafness. There is a high frequency of mutant alleles, largely accounted for by one common mutation, 35delG. We have studied a group of families, who had been brought together through marriages between Deaf persons, in which there are more than 30 Deaf people in four generations. We show that many of the several cases of deafness are the result of 35delG homozygosity or 35delG/Q57X compound heterozygosity at the connexin26 locus. A considerable range of audiographic phenotypes was observed. The combined effects of a high population frequency of mutant alleles, and of positive assortative marriage among the Deaf, led to an infrequently observed recessive pedigree pattern.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
authors.forename: S A
authors.initials: SA
authors.lastname: Wilcox
authors.forename: A H
authors.initials: AH
authors.lastname: Osborn
authors.forename: D R
authors.initials: DR
authors.lastname: Allen-Powell
authors.forename: M A
authors.initials: MA
authors.lastname: Maw
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
mesh_terms: D000483:Alleles; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26