{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T12:58:08Z","timestamp":1780491488560,"version":"3.54.1"},"reference-count":60,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T00:00:00Z","timestamp":1682640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Study of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)","award":["FSRG-2023-0003"],"award-info":[{"award-number":["FSRG-2023-0003"]}]},{"name":"Study of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}]},{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["FSRG-2023-0003"],"award-info":[{"award-number":["FSRG-2023-0003"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Institute of Cytology and Genetics SB RAS","award":["FSRG-2023-0003"],"award-info":[{"award-number":["FSRG-2023-0003"]}]},{"name":"Institute of Cytology and Genetics SB RAS","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified 14 allelic variants: pathogenic\/likely pathogenic\u2014nine variants, benign\u2014three variants, unclassified\u2014one variant, and one novel variant. The contribution of the GJB2 gene variants to the etiology of hearing impairment (HI) in the total sample of patients was 15.8% (26 out of 165) and significantly differed in patients of different ethnicity (5.1% in Buryat patients and 28.9% in Russian patients). In patients with DFNB1A (n = 26), HIs were congenital\/early onset (92.3%), symmetric (88.5%), sensorineural (100.0%), and variable in severity (moderate\u201411.6%, severe\u201426.9% or profound\u201461.5%). The reconstruction of the SNP haplotypes with three frequent GJB2 pathogenic variants (c.-23+1G&gt;A, c.35delG or c.235delC), in comparison with previously published data, supports a major role of the founder effect in the expansion of the c.-23+1G&gt;A and c.35delG variants around the world. Comparative analysis of the haplotypes with c.235delC revealed one major haplotype G A C T (97.5%) in Eastern Asians (Chinese, Japanese and Korean patients) and two haplotypes, G A C T (71.4%) and G A C C (28.6%), in Northern Asians (Altaians, Buryats and Mongols). The variable structure of the c.235delC-haplotypes in Northern Asians requires more studies to expand our knowledge about the origin of this pathogenic variant.<\/jats:p>","DOI":"10.3390\/genes14051001","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T05:46:06Z","timestamp":1682660766000},"page":"1001","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6866-9462","authenticated-orcid":false,"given":"Vera G.","family":"Pshennikova","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6\/3, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fedor M.","family":"Teryutin","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6\/3, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M.","family":"Cherdonova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuyara V.","family":"Borisova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisen V.","family":"Solovyev","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2936-5818","authenticated-orcid":false,"given":"Georgii P.","family":"Romanov","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0307-4203","authenticated-orcid":false,"given":"Igor V.","family":"Morozov","sequence":"additional","affiliation":[{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"},{"name":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9181-0487","authenticated-orcid":false,"given":"Alexander A.","family":"Bondar","sequence":"additional","affiliation":[{"name":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-3591","authenticated-orcid":false,"given":"Olga L.","family":"Posukh","sequence":"additional","affiliation":[{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"},{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6952-3868","authenticated-orcid":false,"given":"Sardana A.","family":"Fedorova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6\/3, 677019 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6984-7934","authenticated-orcid":false,"given":"Nikolay A.","family":"Barashkov","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6\/3, 677019 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"E34","DOI":"10.1002\/lary.24332","article-title":"GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype","volume":"124","author":"Chan","year":"2014","journal-title":"Laryngoscope"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1177\/0003489415575060","article-title":"Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: Their origin and a literature review","volume":"124","author":"Tsukada","year":"2015","journal-title":"Ann. Otol. Rhinol. 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