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Molecular testing for mutations in the connexin 26 gene (GJB2) is a routine diagnostic analysis for subjects with hereditary hearing loss worldwide. However, till now there is no assessment of the diagnostic significance of this analysis for Russian patients, and there are difficulties in interpretation of the results of DNA diagnostics. In the present(More)
Hereditary hearing loss with the autosomal recessive mode of inheritance with DFNB1 genetic type, caused by mutations in the GJB2 gene, is major cause of congenital non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defects; however, large deletions in the(More)
The objective of the present work was to study specific features of the audiological phenotype and the prevalence of GJB2-related sensorineural hearing loss (SNHL) in the infants suffering acoustic disturbances. The study included 264 children with bilateral non-syndromic sensorineural loss of hearing diagnosed during the first year of life by means of(More)
A total of 111 unrelated probands and their 8 sibs from Grodno oblast (Belarus) with bilateral isolated sensorineural hearing impairment were studied for the presence of mutations in the connexin 26 (GJB2) gene. Mutations were detected in 51 probands (46% of the sample). A significantly higher frequency of the GJB2 gene mutations was observed in familial(More)
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