Abstract
Background: Cloning of cystic fibrosis transmembrane regulator (CFTR) gene encoding a protein-a cystic fibrosis transmembrane regulator and its subsequent study allowed to identify more than 2000 mutations that are the etiological causes of CF. Research methods created on the basis of new generation sequencing (NGS) technology have become widely used for molecular genetic diagnosis of CF.
Aim: To describe mutations that are not presented in international databases: HGMD (The Human Gene Mutation Database) and cftr2.org.
Methods: 191 CF patients underwent NGS. The presence/absence of pancreatic insufficiency was assessed by level of pancreatic elastase-1 in feces. Liver damage (fibrosis/cirrhosis) was determined by transient fibroelastometry using the METAVIR F0-F4 scale.
Results: 71 CFTR gene mutations were revealed, with 14 variants have not been described previously. Amid these variants there are 4 missense-mutations (c.580G>A, c.4298A>G, c.613C>A, c.1526G>A), 3 nonsense-mutations (p.252T>A, c.237G>A, c.1488G>A), 6 deletions (c.353del, c.1708_1712del, c.3927_3938del, c.1219del, c.1853_1863del, c*1279del) and 1 splicing- c.2619+1G>A.
It is noteworthy that c.3927_3938del had a patient of Chechen ethnos, c.1708_1712del had a patient from Karachay-Cherkessia and c.353del had a patient from Dagestan. All 3 regions lie in the northwest of Russia's North Caucasus region.
It was shown that presence of c.4298A>G, c.1526G>A, c.580G>A was not accompanied by development of pancreatic insufficiency, all other mutations were accompanied by development of severe pancreatic insufficiency. A patient with c.1219del had moderate liver fibrosis-F2.
Conclusion: New CFTR gene's mutations and phenotype in Russian CF patients were described.
Footnotes
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2763.
This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2020