Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

V. Y. Danilchenko; M. V. Zytsar; M. S. Bady-Khoo; E. A. Maslova; A. A. Bondar; I. V. Morozov; N. A. Barashkov; O. L. Posukh

doi:10.1038/s41431-020-00741-5

Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

V. Y. Danilchenko, M. V. Zytsar, M. S. Bady-Khoo, E. A. Maslova, A. A. Bondar, I. V. Morozov, N. A. Barashkov, O. L. Posukh

Research output: Contribution to journal › Meeting Abstract › peer-review

2 Citations (Scopus)

Abstract

Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants are
currently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).

Original language	English
Article number	P02.14
Pages (from-to)	810-811
Number of pages	2
Journal	European journal of human genetics
Volume	28
Issue number	Suppl 1
DOIs	https://doi.org/10.1038/s41431-020-00741-5
Publication status	Published - 1 Dec 2020
Event	53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference Duration: 6 Jun 2020 → 9 Jun 2020 Conference number: 53

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Danilchenko, V. Y., Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Bondar, A. A., Morozov, I. V., Barashkov, N. A., & Posukh, O. L. (2020). Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). European journal of human genetics, 28(Suppl 1), 810-811. [P02.14]. https://doi.org/10.1038/s41431-020-00741-5

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title = "Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)",

abstract = "Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants arecurrently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).",

author = "Danilchenko, {V. Y.} and Zytsar, {M. V.} and Bady-Khoo, {M. S.} and Maslova, {E. A.} and Bondar, {A. A.} and Morozov, {I. V.} and Barashkov, {N. A.} and Posukh, {O. L.}",

note = "Study was supported by Projects #0259-2019-0010-C-01, #0324-2019-0041-C-01 and RFBR grants #17-29-06016_ofi-m, #20-015-00328_a.; 53rd Conference of the European-Society-of-Human-Genetics (ESHG), ESHG ; Conference date: 06-06-2020 Through 09-06-2020",

year = "2020",

month = dec,

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doi = "10.1038/s41431-020-00741-5",

language = "English",

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Danilchenko, VY, Zytsar, MV, Bady-Khoo, MS, Maslova, EA , Bondar, AA , Morozov, IV, Barashkov, NA & Posukh, OL 2020, 'Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)', European journal of human genetics, vol. 28, no. Suppl 1, P02.14, pp. 810-811. https://doi.org/10.1038/s41431-020-00741-5

Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). / Danilchenko, V. Y.; Zytsar, M. V.; Bady-Khoo, M. S. et al.

In: European journal of human genetics, Vol. 28, No. Suppl 1, P02.14, 01.12.2020, p. 810-811.

Research output: Contribution to journal › Meeting Abstract › peer-review

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AU - Danilchenko, V. Y.

AU - Zytsar, M. V.

AU - Bady-Khoo, M. S.

AU - Maslova, E. A.

AU - Bondar, A. A.

AU - Morozov, I. V.

AU - Barashkov, N. A.

AU - Posukh, O. L.

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AB - Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants arecurrently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).

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JO - European journal of human genetics

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Y2 - 6 June 2020 through 9 June 2020

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Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

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