Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Muta...
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| Format: | Article |
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MDPI AG
2021-12-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/12/2378 |
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| author | Valeriia Yu. Danilchenko Marina V. Zytsar Ekaterina A. Maslova Marita S. Bady-Khoo Nikolay A. Barashkov Igor V. Morozov Alexander A. Bondar Olga L. Posukh |
| author_facet | Valeriia Yu. Danilchenko Marina V. Zytsar Ekaterina A. Maslova Marita S. Bady-Khoo Nikolay A. Barashkov Igor V. Morozov Alexander A. Bondar Olga L. Posukh |
| author_sort | Valeriia Yu. Danilchenko |
| collection | DOAJ |
| description | Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the <i>SLC26A4</i> gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the <i>SLC26A4</i> gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic <i>SLC26A4</i> mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the <i>SLC26A4</i>-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The <i>SLC26A4</i> mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients. |
| first_indexed | 2024-03-10T04:18:51Z |
| format | Article |
| id | doaj.art-4800eab104624524956d659e19c4d0b7 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T04:18:51Z |
| publishDate | 2021-12-01 |
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| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-4800eab104624524956d659e19c4d0b72023-11-23T07:55:14ZengMDPI AGDiagnostics2075-44182021-12-011112237810.3390/diagnostics11122378Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)Valeriia Yu. Danilchenko0Marina V. Zytsar1Ekaterina A. Maslova2Marita S. Bady-Khoo3Nikolay A. Barashkov4Igor V. Morozov5Alexander A. Bondar6Olga L. Posukh7Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, RussiaFederal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, RussiaFederal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, RussiaPerinatal Center of the Republic of Tyva, 667000 Kyzyl, RussiaYakut Scientific Centre of Complex Medical Problems, 677019 Yakutsk, RussiaNovosibirsk State University, 630090 Novosibirsk, RussiaInstitute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, RussiaFederal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, RussiaHereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the <i>SLC26A4</i> gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the <i>SLC26A4</i> gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic <i>SLC26A4</i> mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the <i>SLC26A4</i>-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The <i>SLC26A4</i> mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.https://www.mdpi.com/2075-4418/11/12/2378hearing lossgenetic diagnosis<i>SLC26A4</i>DFNB4TuviniansAltaians |
| spellingShingle | Valeriia Yu. Danilchenko Marina V. Zytsar Ekaterina A. Maslova Marita S. Bady-Khoo Nikolay A. Barashkov Igor V. Morozov Alexander A. Bondar Olga L. Posukh Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) Diagnostics hearing loss genetic diagnosis <i>SLC26A4</i> DFNB4 Tuvinians Altaians |
| title | Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) |
| title_full | Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) |
| title_fullStr | Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) |
| title_full_unstemmed | Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) |
| title_short | Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) |
| title_sort | different rates of the i slc26a4 i related hearing loss in two indigenous peoples of southern siberia russia |
| topic | hearing loss genetic diagnosis <i>SLC26A4</i> DFNB4 Tuvinians Altaians |
| url | https://www.mdpi.com/2075-4418/11/12/2378 |
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