The frequency of mutations in the ATP7B gene in Russia

Wilson's disease (WD, OMIM # 277900), or hepatolenticular degeneration, is an autosomal recessive disease caused by a large number of different mutations in the ATP7B gene. More than 700 different mutations in the coding sequence of ATP7B have been described so far. Several studies provide information about specific mutations' frequencies in WD patients in Russia. However, there is no direct data on overall ATP7B mutation frequencies among Russian citizens. In this study, we used the NGS Ion Torrent platform to identify mutations in the ATP7B gene in a random sample of the Russian population. We performed analysis of coding sequences of the ATP7B gene for 962 people from the general population of the Novosibirsk region. Frequency of mutations with clinical significance was found to be 0.93%. The most frequent mutations with clinical significance were His1069Gln (0.62%) and Glu1064Lys (0.31%). Analysis of the spectrum and prevalence of mutations in the Russian population revealed a pattern similar to other countries with predominantly Caucasian populations.