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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia

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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia

Content Provider	Springer Nature Link
Author	Bozhkova, V. P. Khashaev, Z. H. Umanskaya, T. M.
Copyright Year	2010
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 Dagestan Republic 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), ΔE120 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, ΔE187, 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.
Starting Page	453
Ending Page	462
Page Count	10
File Format	PDF
ISSN	00063509
Journal	Biophysics
Volume Number	55
Issue Number	3
e-ISSN	15556654
Language	English
Publisher	SP MAIK Nauka/Interperiodica
Publisher Date	2010-10-06
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	connexins connexin 26 gap junctions genes deafness hearing loss Biophysics and Biological Physics
Content Type	Text
Resource Type	Article
Subject	Biophysics

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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia

TONAL AUDIOLOGICAL PERFORMANCE EVALUATION AFTER COCHLEAR IMPLANTATION IN CHILDREN WITH GJB2 GENE RELATED HEARING LOSS

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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia

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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia

TONAL AUDIOLOGICAL PERFORMANCE EVALUATION AFTER COCHLEAR IMPLANTATION IN CHILDREN WITH GJB2 GENE RELATED HEARING LOSS

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Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia