Section: 
Science articles
Science articlesMutations in the gjb2 gene in children with bilateral hearing loss in Kyrgyzstan
V. V. Khalfina (1), A. A. Stepanova (3), T. G. Markova (2), A. V. Polyakov (3), G. A. Tavartkiladze (2), V. A. Nasyrov (4)
(1) Yeltsin Kyrgyz-Russian Slavic University, Bishkek, 720000, Kyrgyz Republic
(2) Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics FMBA of Russia, Moscow, 117513, Russia
(3) Academician Bochkov Medical Genetic Research Center, Moscow, 115478, Russia
(4) Akhunbaev Kyrgyz State Medical Academy, Bishkek, 720020, Kyrgyz Republic
UDK: 616.28-009-053.1(575.2)
DOI: https://doi.org/10.18692/1810-4800-2020-6-64-71
ABSTRACT
The purpose of this work was to identify and study the prevalence of mutations in the GJB2 gene encoding the connexin 26 protein in the Kyrgyz Republic. Hearing loss is currently the most widespread disease. This paper presents a study of 89 patients with persistent bilateral sensorineural hearing loss and deafness of unknown etiology. All patients were divided into two groups. One group included patients with an unburdened family history, the second group included patients with a burdened family history. When clarifying the etiology of the disease, we can assume further dynamics of the hearing thresholds, as well as select the necessary tactics for managing such patients for early rehabilitation. As a result of molecular genetic research, mutations in the GJB2 gene were detected in 19 patients (21,3%). The 35delG mutation was found in a homozygous state in 5 children from parents of Russian and Tatar origin. In 4 families, parents were in an assorted marriage. Among 62 Kyrgyz, mutations in the GJB2 gene were detected in 9 cases, which accounted for 14,5% of cases. The 35delG mutation among the Kyrgyz was found only in the compound heterozygous state with the 235delC mutation in 3 children and with the –23 + 1G> A mutation in one child.
Publication date:
08.12.2020
Keywords:
gene GJB2, hereditary non-syndromic hearing loss and deafness.
For citation:
Khalfina V. V., Stepanova A. A., Markova T. G., Polyakov A. V., Tavartkiladze G. A., Nasyrov V. A. Mutations in the gjb2 gene in children with bilateral hearing loss in Kyrgyzstan. Rossiiskaya otorinolaringologiya. 2020;19(6):64–71. https://doi.org/10.18692/1810-4800-2020-6-64-71