title: Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar.
abstract: Twenty percent of all childhood deafness is due to mutations in the GJB2 gene (Connexin 26). The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in childhood deafness in Malaysia. We analyzed the GJB2 gene in 51 deaf students from Sekolah Pendidikan Khas Alor Setar, Kedah. Bidirectional sequencing indicates that 25% of our childhood deafness has mutation in their GJB2 gene. Sixty two percent of these children demonstrate V37I missense mutation. Interestingly, V37I mutation in the GJB2 gene have been reported as polymorphism in Western countries, however in our country it behaved as a potentially disease-causing missense mutation, causing childhood deafness as it was not found in the normal control.
authors.affiliation: Department of Physiology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Raja Muda Abdul Aziz, Kuala Lumpur.
authors.forename: B H I
authors.initials: BH
authors.lastname: Ruszymah
authors.forename: I Farah
authors.initials: IF
authors.lastname: Wahida
authors.forename: Y
authors.initials: Y
authors.lastname: Zakinah
authors.forename: Z
authors.initials: Z
authors.lastname: Zahari
authors.forename: M D
authors.initials: MD
authors.lastname: Norazlinda
authors.forename: L
authors.initials: L
authors.lastname: Saim
authors.forename: B S
authors.initials: BS
authors.lastname: Aminuddin
mesh_terms: D000293:Adolescent; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000151:congenital / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D015995:Prevalence
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26