Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
N V PetrovaNataliya Y KashirskayaD K SaydaevaA V PolyakovT A AdyanO I SimonovaY V GorinovaE I KondratyevaV D ShermanO G NovoselovaT A VasilyevaA V MarakhonovM MacekE K GinterR A ZinchenkoPublished in: BMC medical genetics (2019)
The distribution of CFTR mutations in the Chechen CF population is unique regarding the high frequency of mutations c.1545_1546delTA and c.274G > A (more than 90% of the mutant alleles). The c.274G > A mutation is associated with a less severe course of CF than that observed in c.1545_1546delTA homozygotes. Testing for these two variants can be proposed as the first step of CF DNA diagnosis in the Chechen population.