Изучение функциональной значимости варианта с.516G>C (p.Trp172Cys) гена GJB2, ассоциированного с потерей слуха у коренного населения Южной Сибири

Translated title of the contribution: Complex assessment of the pathogenetic significance of variant с.516G>C (p.Trp172Cys) in the GJB2 gene which is associated with hereditary hearing loss in indigenous population of Southern Siberia

Екатерина Александровна Маслова, Марина Вячеславовна Зыцарь, Valeriia Yu Danilchenko, Константин Евгеньевич Орищенко, Ольга Леонидовна Посух

Research output: Contribution to journalArticlepeer-review

Abstract

We present the results of a complex assessment of the pathogenetic significance of novel variant c.516G>C (p.Trp172Cys) of the GJB2 gene found with high frequency in deaf patients from the Tyva and Altai Republics. Several lines of evidences support pathogenicity of this variant due to its damaging effect on the structure and functioning of connexin 26 (Cx26).
Translated title of the contributionComplex assessment of the pathogenetic significance of variant с.516G>C (p.Trp172Cys) in the GJB2 gene which is associated with hereditary hearing loss in indigenous population of Southern Siberia
Original languageRussian
Article number21
Pages (from-to)51-53
Number of pages3
JournalМедицинская генетика
Volume19
Issue number7
DOIs
Publication statusPublished - 2020

OECD FOS+WOS

  • 3.01 BASIC MEDICAL RESEARCH
  • 1.06 BIOLOGICAL SCIENCES

State classification of scientific and technological information

  • 76 MEDICINE AND HEALTH CARE

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