Updating Diagnostic Spectrum of Recurring CFTR Mutations
- Autores: Adyan T.1,2, Stepanova A.1, Krasovskiy S.1,3, Polyakov A.1
-
Afiliações:
- Research Centre of Medical Genetics
- Pirogov Russian National Research Medical University
- Pulmonology Research Institute of the Federal Biomedical Agency
- Edição: Volume 54, Nº 10 (2018)
- Páginas: 1235-1244
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188629
- DOI: https://doi.org/10.1134/S1022795418100022
- ID: 188629
Citar
Resumo
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%.
Palavras-chave
Sobre autores
T. Adyan
Research Centre of Medical Genetics; Pirogov Russian National Research Medical University
Autor responsável pela correspondência
Email: tagui.adyan@yandex.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Stepanova
Research Centre of Medical Genetics
Email: tagui.adyan@yandex.ru
Rússia, Moscow, 115478
S. Krasovskiy
Research Centre of Medical Genetics; Pulmonology Research Institute of the Federal Biomedical Agency
Email: tagui.adyan@yandex.ru
Rússia, Moscow, 115478; Moscow, 105077
A. Polyakov
Research Centre of Medical Genetics
Email: tagui.adyan@yandex.ru
Rússia, Moscow, 115478