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
https://doi.org/10.25557/2073-7998.2020.07.51-53
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).
About the Authors
E. A. Maslova
Novosibirsk State University
Russian Federation
Russian Federation
M. V. Zytsar
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
V. Yu. Danilchenko
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
K. E. Orishchenko
Novosibirsk State University
Russian Federation
Russian Federation
O. L. Posukh
Novosibirsk State University
Russian Federation
Russian Federation
Review
For citations:
Maslova E.A., Zytsar M.V., Danilchenko V.Yu., Orishchenko K.E., Posukh O.L. 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. Medical Genetics. 2020;19(7):51-53. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.51-53
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