One possible cause for severe cystic fibrosis phenotype has been identified

Genes published the results of the study of phenotypic manifestations of pathogenic variant c.3844T> C (p.Trp1282Arg, W1282R) of the CFTR gene (impact factor 3.759). Analysis of data from the RF Registry of cystic fibrosis patients for 2012-2018 helped to establish that W1282R defined a severe phenotype of the disease with pancreatic failure, comparable in severity with the F508del homozygous genotype.

The work involved researchers of the Genetic Epidemiology Laboratory (headed by R.A. Zinchenko, Dr. of med. sci.) and FBSI RCMG Cystic Fibrosis Research and Clinical Department (headed by E.I. Kondratyeva, Dr. of med. sci.).

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Nika V. Petrova; Nataliya Y. Kashirskaya; Stanislav A. Krasovskiy; Elena L. Amelina; Elena I. Kondratyeva; Andrey V. Marakhonov; Tatyana A. Vasilyeva; Anna Y. Voronkova; Victoria D. Sherman; Evgeny K. Ginter; Sergey I. Kutsev; Rena A. Zinchenko.
Genes 2020, 11, 1137; doi:10.3390/genes11101137

https://www.mdpi.com/2073-4425/11/10/1137?type=check_update&version=1