{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:27:21Z","timestamp":1781555241928,"version":"3.54.5"},"reference-count":71,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["21-75-00030"],"award-info":[{"award-number":["21-75-00030"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["FWNR-2022-0003"],"award-info":[{"award-number":["FWNR-2022-0003"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["FSUS-2020-0040"],"award-info":[{"award-number":["FSUS-2020-0040"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Project of the Institute of Cytology and Genetics SB RAS","award":["21-75-00030"],"award-info":[{"award-number":["21-75-00030"]}]},{"name":"Project of the Institute of Cytology and Genetics SB RAS","award":["FWNR-2022-0003"],"award-info":[{"award-number":["FWNR-2022-0003"]}]},{"name":"Project of the Institute of Cytology and Genetics SB RAS","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}]},{"name":"Project of the Institute of Cytology and Genetics SB RAS","award":["FSUS-2020-0040"],"award-info":[{"award-number":["FSUS-2020-0040"]}]},{"name":"Ministry of Education and Science of Russian Federation","award":["21-75-00030"],"award-info":[{"award-number":["21-75-00030"]}]},{"name":"Ministry of Education and Science of Russian Federation","award":["FWNR-2022-0003"],"award-info":[{"award-number":["FWNR-2022-0003"]}]},{"name":"Ministry of Education and Science of Russian Federation","award":["FWNR-2022-0021"],"award-info":[{"award-number":["FWNR-2022-0021"]}]},{"name":"Ministry of Education and Science of Russian Federation","award":["FSUS-2020-0040"],"award-info":[{"award-number":["FSUS-2020-0040"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss worldwide. Earlier, we found a high proportion of SLC26A4-related hearing loss with prevailing pathogenic variant c.919-2A&gt;G (69.3% among all mutated SLC26A4 alleles that have been identified) in Tuvinian patients belonging to the indigenous Turkic-speaking Siberian people living in the Tyva Republic (Southern Siberia, Russia), which implies a founder effect in the accumulation of c.919-2A&gt;G in Tuvinians. To evaluate a possible common origin of c.919-2A&gt;G, we genotyped polymorphic STR and SNP markers, intragenic and flanking SLC26A4, in patients homozygous for c.919-2A&gt;G and in healthy controls. The common STR and SNP haplotypes carrying c.919-2A&gt;G were revealed, which convincingly indicates the origin of c.919-2A&gt;G from a single ancestor, supporting a crucial role of the founder effect in the c.919-2A&gt;G prevalence in Tuvinians. Comparison analysis with previously published data revealed the identity of the small SNP haplotype (~4.5 kb) in Tuvinian and Han Chinese carriers of c.919-2A&gt;G, which suggests their common origin from founder chromosomes. We assume that c.919-2A&gt;G could have originated in the geographically close territories of China or Tuva and subsequently spread to other regions of Asia. In addition, the time intervals of the c.919-2A&gt;G occurrence in Tuvinians were roughly estimated.<\/jats:p>","DOI":"10.3390\/genes14040928","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T02:30:03Z","timestamp":1681785003000},"page":"928","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Insight into the Natural History of Pathogenic Variant c.919-2A&gt;G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5658-5974","authenticated-orcid":false,"given":"Valeriia","family":"Danilchenko","sequence":"first","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1219-9881","authenticated-orcid":false,"given":"Marina","family":"Zytsar","sequence":"additional","affiliation":[{"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\/0000-0001-5079-9787","authenticated-orcid":false,"given":"Ekaterina","family":"Maslova","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9718-9038","authenticated-orcid":false,"given":"Konstantin","family":"Orishchenko","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-3591","authenticated-orcid":false,"given":"Olga","family":"Posukh","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1297-411","article-title":"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)","volume":"17","author":"Everett","year":"1997","journal-title":"Nat. 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