Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

E. A. Maslova, M. V. Zytsar, V. Y. Danilchenko, K. E. Orishchenko, O. L. Posukh

Research output: Contribution to journalMeeting Abstractpeer-review

Abstract

Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).
Original languageEnglish
Article numberP02.27.B
Pages (from-to)191-192
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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