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

Результат исследования: Научные публикации в периодических изданияхтезисырецензирование

Аннотация

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).
Язык оригиналаанглийский
Номер статьиP02.27.B
Страницы (с-по)191-192
Число страниц2
ЖурналEuropean journal of human genetics
Том28
Номер выпускаSuppl 1
DOI
СостояниеОпубликовано - 1 дек 2020
Событие53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference
Продолжительность: 6 июн 20209 июн 2020
Номер конференции: 53

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