Section: 
Science articles
Science articlesGenetic examination of children with hearing impairment
in the astrakhan region
E. A. Grigor’eva (1), E. A. Ivanova (4), T. G. Markova (2), (3), S. S. Chibisova (2), (3), E. A. Bliznets (4), A. V. Polyakov (4), G. A. Tavartkiladze (2), (3)
(1) Silischev Regional Children’s Clinical Hospital,Astrakhan, 414011, Russia
(2) Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics FMBA of Russia,Moscow, 117513, Russia
(3) Russian Medical Academy of Continuing Professional Education,Moscow, 125993, Russia
(4) Academician Bochkov Medical Genetic Research Center,Moscow, 115478, Russia
UDK: 616.28-008.14+616.28-009-053.1:575.113
DOI: https://doi.org/10.18692/1810-4800-2020-5-44-50
ABSTRACT
To study the prevalence of mutations in the GJB2 gene in deaf and deaf children in the Astrakhan region and compare them with the frequency of mutations in children with hearing impairment living in other regions of the Russian Federation taking into account regional characteristics. This work describes the results of epidemiological, audiological analysis, medical and genetic examination of children. We examined 6 frequent recessive mutations in the GJB2 gene in a group of 79 hearing impaired children registered with the Regional Center for Hearing Rehabilitation. Mutations were detected in 36 children (46%), with two mutations found only in 18 children (23%), and another 18 children were carriers of the same mutation. In 9 children (11.5%), the 35 delG mutation was detected in the homozygous state and in 9 children (11.5%) in the compound heterozygous state with a different mutation. We have shown that the results obtained do not correspond to the high prevalence of gene mutations (more than 50%) in groups of children with hearing impairment, established in most regions of the Russian Federation, as well as in several countries in Europe, China and Japan. The large number of carriers of a single gene mutation indicates the need to study the entire gene sequence and may be a consequence of the mixed ethnic composition of the subjects.
Publication date:
21.10.2020
Keywords:
GJB2 gene, congenital hearing loss, bilateral sensorineural nonsyndromic hearing loss.
For citation:
Grigor’eva E. A., Ivanova E. A., Markova T. G., Chibisova S. S., Bliznets E. A., Polyakov A. V., Tavartkiladze G. A. Genetic examination of children with hearing impairment in the Astrakhan Region. Rossiiskaya otorinolaringologiya. 2020;19(5):44–50. https://doi.org/10.18692/1810-4800-2020-5-44-50