TY - JOUR

T1 - Genetic etiology of hearing loss in Russia

AU - Posukh, Olga L.

N1 - Funding Information: This work was supported by Russian State Budjet program No 0259-2021-0014 and by the Russian Foundation for Basic Research (Grant No 20-015-00328_A). Publisher Copyright: © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

PY - 2022/4

Y1 - 2022/4

N2 - Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the hereditary HL diversity and the evaluation of the factors determining the region-specific landscapes of genetic HL are important for local healthcare and medical genetic services. This review presents the summarized data from the published studies concerning the genetic etiology of HL in different populations of Russia. Multiethnic population of Russia (in total, about 146 million on 2021) includes over 180 different ethnic groups, the number of which varies from millions to just several thousand people. Among them, Russians are the largest group (about 111 million). The contribution of GJB2 gene in the HL etiology in patients of different ethnicities and ethnic-specific prevalence of the GJB2 pathogenic variants were studied in many local populations of Russia. However, the investigation of other “deafness” genes is still limited to a relatively small number of studies on patients with HL of unsolved etiology.

AB - Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the hereditary HL diversity and the evaluation of the factors determining the region-specific landscapes of genetic HL are important for local healthcare and medical genetic services. This review presents the summarized data from the published studies concerning the genetic etiology of HL in different populations of Russia. Multiethnic population of Russia (in total, about 146 million on 2021) includes over 180 different ethnic groups, the number of which varies from millions to just several thousand people. Among them, Russians are the largest group (about 111 million). The contribution of GJB2 gene in the HL etiology in patients of different ethnicities and ethnic-specific prevalence of the GJB2 pathogenic variants were studied in many local populations of Russia. However, the investigation of other “deafness” genes is still limited to a relatively small number of studies on patients with HL of unsolved etiology.

KW - Connexin 26/genetics

KW - Connexins/genetics

KW - Deafness/genetics

KW - Hearing Loss, Sensorineural/genetics

KW - Hearing Loss/genetics

KW - Humans

KW - Mutation

KW - Russia/epidemiology

UR - http://www.scopus.com/inward/record.url?scp=85112670296&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/a6666dab-888a-38ba-bc07-39fd327f9abe/

U2 - 10.1007/s00439-021-02327-7

DO - 10.1007/s00439-021-02327-7

M3 - Review article

C2 - 34363095

AN - SCOPUS:85112670296

VL - 141

SP - 649

EP - 663

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3-4

ER -