title: Prevalent connexin 26 gene (GJB2) mutations in Japanese.
abstract: The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2 mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Of these three mutations, 235delC was most prevalent at 73%. Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations.
authors.affiliation: Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: S
authors.initials: S
authors.lastname: Usami
authors.forename: H
authors.initials: H
authors.lastname: Shinkawa
authors.forename: P M
authors.initials: PM
authors.lastname: Kelley
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
mesh_terms: D019943:Amino Acid Substitution; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015995:Prevalence; D017384:Sequence Deletion
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26