title: [Frequency and the mutation spectrum of GJB2-related disorders of hearing in children from Dagestan as compared with the central European part of Russia].
abstract: The sequencing of the entire coding region and the donor site of the splicing of the GJB2 gene has shown that prelingual neurosensory nonsyndromic autosomal recessive deafness/poor hearing in Republic Dagestan is genetically more heterogeneous than in the central European part of Russia. Thus, the number of the revealed mutations in the GJB2 gene in Dagestan was only 28% of the total number of alleles in patients tested. The main mutations in the GJB2 gene in Dagestan were represented by three forms typical for West Asia: 35delG mutation (22% of all mutant alleles), deltaE120 mutation (22%), both in the coding region, and IVS 1+1 G > A (44%) in the donor site of splicing. In addition, a novel mutation, deltaE187, was revealed in the coding region. All mutations were found in a compound heterozygous or a heterozygous state. This result allows one to explain the deafness/poor hearing by pathogenic mutations in the GJB2 gene only in 19% of Dagestan families with neurosensory nonsyndromic autosomal recessive disorders of hearing. We suggest that the origin and maintenance of the allele diversity of inherited deafness/poor hearing in Dagestan can be explained by the national and cultural peculiarities of small populations of nations of North Caucasus.
authors.forename: V P
authors.initials: VP
authors.lastname: Bozhkova
authors.forename: Z Kh
authors.initials: ZKh
authors.lastname: Khashaev
authors.forename: T M
authors.initials: TM
authors.lastname: Umanskaia
mesh_terms: D000293:Adolescent; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003610:Dagestan; D005787:Gene Frequency; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012426:Russia; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26