title: Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients.
abstract: The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus is the most common mutation in patients with autosomal-recessive sensorineural deafness. Genetic diagnosis is crucial for genetic counseling. We have developed an easy and simple method and screened a total of 235 unrelated hearing-impaired children. We found 48 of the subjects to be homozygous for the mutation, including 27 of 83 familial cases, 15 of 101 singletons, 4 of 9 subjects born to assortative marriages (deaf married to deaf), and 2 of 42 subjects for whom the parents claimed an environmental factor as the etiology of the condition. The high ratio of individuals homozygous for the mutation indicated that the 35delG mutation in the connexin gene accounts for more than 90% of the mutations at this locus.
authors.affiliation: Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Bariş
authors.forename: M O
authors.initials: MO
authors.lastname: Kilinç
authors.forename: A
authors.initials: A
authors.lastname: Tolun
mesh_terms: D000293:Adolescent; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009154:Mutation; D014421:Turkey
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26