Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Un...
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ftdoajarticles:oai:doaj.org/article:f81ef01b7f9f4787a28282561df238bc 2023-05-15T18:08:29+02:00 Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). Nikolay A Barashkov Vera G Pshennikova Olga L Posukh Fedor M Teryutin Aisen V Solovyev Leonid A Klarov Georgii P Romanov Nyurgun N Gotovtsev Andrey A Kozhevnikov Elena V Kirillina Oksana G Sidorova Lena M Vasilyevа Elvira E Fedotova Igor V Morozov Alexander A Bondar Natalya A Solovyevа Sardana K Kononova Adyum M Rafailov Nikolay N Sazonov Anatoliy N Alekseev Mikhail I Tomsky Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova 2016-01-01T00:00:00Z https://doi.org/10.1371/journal.pone.0156300 https://doaj.org/article/f81ef01b7f9f4787a28282561df238bc EN eng Public Library of Science (PLoS) http://europepmc.org/articles/PMC4880331?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0156300 https://doaj.org/article/f81ef01b7f9f4787a28282561df238bc PLoS ONE, Vol 11, Iss 5, p e0156300 (2016) Medicine R Science Q article 2016 ftdoajarticles https://doi.org/10.1371/journal.pone.0156300 2022-12-31T06:16:18Z Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts-296, Russians-51, mixed and other ethnicities-46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant ... Article in Journal/Newspaper Sakha Republic Subarctic Yakutia Yakuts Directory of Open Access Journals: DOAJ Articles Sakha PLOS ONE 11 5 e0156300 |
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Directory of Open Access Journals: DOAJ Articles |
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English |
topic |
Medicine R Science Q |
spellingShingle |
Medicine R Science Q Nikolay A Barashkov Vera G Pshennikova Olga L Posukh Fedor M Teryutin Aisen V Solovyev Leonid A Klarov Georgii P Romanov Nyurgun N Gotovtsev Andrey A Kozhevnikov Elena V Kirillina Oksana G Sidorova Lena M Vasilyevа Elvira E Fedotova Igor V Morozov Alexander A Bondar Natalya A Solovyevа Sardana K Kononova Adyum M Rafailov Nikolay N Sazonov Anatoliy N Alekseev Mikhail I Tomsky Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
topic_facet |
Medicine R Science Q |
description |
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts-296, Russians-51, mixed and other ethnicities-46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant ... |
format |
Article in Journal/Newspaper |
author |
Nikolay A Barashkov Vera G Pshennikova Olga L Posukh Fedor M Teryutin Aisen V Solovyev Leonid A Klarov Georgii P Romanov Nyurgun N Gotovtsev Andrey A Kozhevnikov Elena V Kirillina Oksana G Sidorova Lena M Vasilyevа Elvira E Fedotova Igor V Morozov Alexander A Bondar Natalya A Solovyevа Sardana K Kononova Adyum M Rafailov Nikolay N Sazonov Anatoliy N Alekseev Mikhail I Tomsky Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova |
author_facet |
Nikolay A Barashkov Vera G Pshennikova Olga L Posukh Fedor M Teryutin Aisen V Solovyev Leonid A Klarov Georgii P Romanov Nyurgun N Gotovtsev Andrey A Kozhevnikov Elena V Kirillina Oksana G Sidorova Lena M Vasilyevа Elvira E Fedotova Igor V Morozov Alexander A Bondar Natalya A Solovyevа Sardana K Kononova Adyum M Rafailov Nikolay N Sazonov Anatoliy N Alekseev Mikhail I Tomsky Lilya U Dzhemileva Elza K Khusnutdinova Sardana A Fedorova |
author_sort |
Nikolay A Barashkov |
title |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
title_short |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
title_full |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
title_fullStr |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
title_full_unstemmed |
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). |
title_sort |
spectrum and frequency of the gjb2 gene pathogenic variants in a large cohort of patients with hearing impairment living in a subarctic region of russia (the sakha republic). |
publisher |
Public Library of Science (PLoS) |
publishDate |
2016 |
url |
https://doi.org/10.1371/journal.pone.0156300 https://doaj.org/article/f81ef01b7f9f4787a28282561df238bc |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Sakha Republic Subarctic Yakutia Yakuts |
genre_facet |
Sakha Republic Subarctic Yakutia Yakuts |
op_source |
PLoS ONE, Vol 11, Iss 5, p e0156300 (2016) |
op_relation |
http://europepmc.org/articles/PMC4880331?pdf=render https://doaj.org/toc/1932-6203 1932-6203 doi:10.1371/journal.pone.0156300 https://doaj.org/article/f81ef01b7f9f4787a28282561df238bc |
op_doi |
https://doi.org/10.1371/journal.pone.0156300 |
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PLOS ONE |
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11 |
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