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

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).