Updating Diagnostic Spectrum of Recurring CFTR Mutations

Abstract

Cystic fibrosis (CF) is a frequent hereditary disease widely observed in Europeans. A correlation of the mutation profile in the CFTR gene with the geographical location and ethnic origin represents an important peculiarity of this disease. In order to identify the most frequent mutations typical for Russian CF patients and create a highly informative diagnostic panel, an analysis of 40 CFTR mutations in a sample of CF patients from different regions of the Russian Federation was performed. The selection of mutations was based on the published data together with the data of the CF Registry of Russian Patients in 2014. The frequencies of analyzed mutations were distributed as follows: F508del (53.6%), E92K (6.6%), CFTRdele2,3(21kb) (5.3%), 1677delTA (3%), 3849+10kbC>T (2.8%), W1282X (2.3%), 2143delT (2.2%), N1303K (2.1%), 2184insA (1.8%), L138ins (1.8%), 3272-16T>A (1.3%), 394delTT (1.0%), G542X (1.0%), W1282R (0.9%), S466X (0.6%), R1066C (0.6%), 2789+5G>A (0.6%), R334W (0.5%), W1310X (0.5%), 1898+1G>A (0.4%), 4015delA (0.4%), S1196X (0.3%), S945L (0.3%), R347P (0.3%), and 1367del5 (0.3%); an additional nine mutations had a frequency less than 0.1%, and the remaining six were unobserved. The total frequency of 40 examined mutations was 91.8%.