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

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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 languageEnglish
Article numberP02.14
Pages (from-to)810-811
Number of pages2
JournalEuropean journal of human genetics
Volume28
Issue numberSuppl 1
DOIs
Publication statusPublished - 1 Dec 2020
Event53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference
Duration: 6 Jun 20209 Jun 2020
Conference number: 53

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