title: High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
abstract: Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 167delT in Ashkenazi Jews, R143W in Africaans and 235delC in Koreans. In this work, DNA samples from 54 unrelated NSHL patients from endogamous and inbred population of Slovak Roms (Gypsies) from Eastern Slovakia were screened for GJB2 mutations. The coding region of the GJB2 gene of patients was sequenced and mutations W24X, R127H, V153I, L90P and V37I were found. In Slovak Romany population, mutation W24X accounts for 23.2%, R127H for 19.4%, 35delG for 8.3%, V153I for 3.7%, L90P for 3.7% and V37I for 0.9% of screened chromosomes. As the W24X mutation was previously found in India and Pakistan, were from the European Romanies originate, it was brought by the European Romnanies from their Indian homeland. The carrier frequency of 35delG was estimated for Slovak non-Romany population to be 3.3%, and for Slovak Romany population to 0.88%. The carrier frequency of W24X varied in different Slovak Romany subpopulations from 0.0% up to 26.1%.
authors.affiliation: Department of Molecular Biology, Comenius University Faculty of Natural Sciences, Mlynská dolina B2-210, 842 15 Bratislava 4, Slovakia. minarik@fns.uniba.sk
authors.forename: G
authors.initials: G
authors.lastname: Minárik
authors.forename: V
authors.initials: V
authors.lastname: Ferák
authors.forename: E
authors.initials: E
authors.lastname: Feráková
authors.forename: A
authors.initials: A
authors.lastname: Ficek
authors.forename: H
authors.initials: H
authors.lastname: Poláková
authors.forename: L
authors.initials: L
authors.lastname: Kádasi
mesh_terms: D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000453:epidemiology*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D006178:Romani People / Q000706:statistics & numerical data; D018154:Slovakia / Q000453:epidemiology; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26