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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ftbashkirstatemu:oai:repo.bashgmu.ru:123456789/669 2024-09-15T18:32:41+00:00 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) Barashkov, Nikolay A. Pshennikova, Vera G. Posukh, Olga L. Teryutin, Fedor M. Solovyev, Aisen V. Klarov, Leonid A. Romanov, Georgii P. Gotovtsev, Nyurgun N. Kozhevnikov, Andrey A. Kirillina, Elena V. Sidorova, Oksana G. Vasilyevа, Lena M. Fedotova, Elvira E. Morozov, Igor V. Bondar, Alexander A. Solovyevа, Natalya A. Kononova, Sardana K. Rafailov, Adyum M. Sazonov, Nikolay N. Alekseev, Anatoliy N. Tomsky, Mikhail I. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. 2016 http://repo.bashgmu.ru/xmlui/handle/123456789/669 unknown PLOS ONE;Том: 11 Выпуск: 5 : Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, Klarov LA, et al. (2016) 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). PLoS ONE 11(5): e0156300. doi:10.1371/journal.pone.0156300 http://repo.bashgmu.ru/xmlui/handle/123456789/669 Spectrum Frequency of the GJB2 Gene Pathogenic Variants Scopus Web of Science Article 2016 ftbashkirstatemu https://doi.org/10.1371/journal.pone.0156300 2024-08-21T03:15:47Z 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 regionin 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 Repozitoriy Bashkirskogo gosudarstvennogo meditsinskogo universiteta PLOS ONE 11 5 e0156300 |
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Repozitoriy Bashkirskogo gosudarstvennogo meditsinskogo universiteta |
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ftbashkirstatemu |
language |
unknown |
topic |
Spectrum Frequency of the GJB2 Gene Pathogenic Variants Scopus Web of Science |
spellingShingle |
Spectrum Frequency of the GJB2 Gene Pathogenic Variants Scopus Web of Science Barashkov, Nikolay A. Pshennikova, Vera G. Posukh, Olga L. Teryutin, Fedor M. Solovyev, Aisen V. Klarov, Leonid A. Romanov, Georgii P. Gotovtsev, Nyurgun N. Kozhevnikov, Andrey A. Kirillina, Elena V. Sidorova, Oksana G. Vasilyevа, Lena M. Fedotova, Elvira E. Morozov, Igor V. Bondar, Alexander A. Solovyevа, Natalya A. Kononova, Sardana K. Rafailov, Adyum M. Sazonov, Nikolay N. Alekseev, Anatoliy N. Tomsky, Mikhail I. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. 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 |
Spectrum Frequency of the GJB2 Gene Pathogenic Variants Scopus Web of Science |
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 regionin 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 |
Barashkov, Nikolay A. Pshennikova, Vera G. Posukh, Olga L. Teryutin, Fedor M. Solovyev, Aisen V. Klarov, Leonid A. Romanov, Georgii P. Gotovtsev, Nyurgun N. Kozhevnikov, Andrey A. Kirillina, Elena V. Sidorova, Oksana G. Vasilyevа, Lena M. Fedotova, Elvira E. Morozov, Igor V. Bondar, Alexander A. Solovyevа, Natalya A. Kononova, Sardana K. Rafailov, Adyum M. Sazonov, Nikolay N. Alekseev, Anatoliy N. Tomsky, Mikhail I. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. |
author_facet |
Barashkov, Nikolay A. Pshennikova, Vera G. Posukh, Olga L. Teryutin, Fedor M. Solovyev, Aisen V. Klarov, Leonid A. Romanov, Georgii P. Gotovtsev, Nyurgun N. Kozhevnikov, Andrey A. Kirillina, Elena V. Sidorova, Oksana G. Vasilyevа, Lena M. Fedotova, Elvira E. Morozov, Igor V. Bondar, Alexander A. Solovyevа, Natalya A. Kononova, Sardana K. Rafailov, Adyum M. Sazonov, Nikolay N. Alekseev, Anatoliy N. Tomsky, Mikhail I. Dzhemileva, Lilya U. Khusnutdinova, Elza K. Fedorova, Sardana A. |
author_sort |
Barashkov, Nikolay A. |
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) |
publishDate |
2016 |
url |
http://repo.bashgmu.ru/xmlui/handle/123456789/669 |
genre |
Sakha Republic Subarctic Yakutia Yakuts |
genre_facet |
Sakha Republic Subarctic Yakutia Yakuts |
op_relation |
PLOS ONE;Том: 11 Выпуск: 5 : Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, Klarov LA, et al. (2016) 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). PLoS ONE 11(5): e0156300. doi:10.1371/journal.pone.0156300 http://repo.bashgmu.ru/xmlui/handle/123456789/669 |
op_doi |
https://doi.org/10.1371/journal.pone.0156300 |
container_title |
PLOS ONE |
container_volume |
11 |
container_issue |
5 |
container_start_page |
e0156300 |
_version_ |
1810474408902393856 |