The clinical pictures of the disease of two Russian patients with cystic fibrosis with a rare nonsense variant c.831G>A (p.Trp277*) are described. The first case is a patient with the genotype comprising variant c.54-5940_273+10250del21kb (CFTRdele2,3), and the genotype of the second case included variant c.1521_1523delCTT (F508del). Patient 1, whose genotype had two class I genetic variants, revealed severe violations of CFTR synthesis based on the intestinal current measurements (ICM) and results obtained in the intestinal organoids. In both cases of patients with genetic variant c.831G>A, a severe course of cystic fibrosis was observed.

描述了两名患有罕见的无意义变体c.831G> A（p.Trp277 *）的俄罗斯囊性纤维化患者的疾病的临床照片。第一个病例的患者的基因型包含变异体c.54-5940_273 + 10250del21kb（CFTRdele2,3），第二个病例的基因型包括变异体c.1521_1523delCTT（F508del）。患者1的基因型具有两个I类遗传变异，根据肠道电流测量（ICM）和在肠道类器官中获得的结果，发现严重违反CFTR合成。在这两种遗传变异为c.831G> A的患者中，均观察到严重的囊性纤维化病程。