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Clinical and genetic characteristics of cystic fibrosis patients and a functional assessment of the work of the chloride channel with the first described pathogenic variant D579Y (с.1735G>T)

[Cystic fibrosis]
Elena Ivanovna Kondratieva; Julia Leonidovna Melyanovskaya; Nika Valentinovna Petrova; Rena Zinchenko; Sergey Kutsev;

The aim of the study was to describe the clinical picture of cystic fibrosis in carriers of the D579Y variant (c.1735G> T). According to the 2017 National Register of Cystic Fibrosis Patients of the Russian Federation, three patients from unrelated families were found to have the c.1735G>T variant, which was in the compound with the c.1521_1523delCTT variant (p.Phe508del). All patients had high levels of sweat test and severe clinical course of the disease. It was found that c.1735G>T belongs to the «severe» variants of the CFTR gene with no chlorine channel function.

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Keywords: cystic fibrosis, intestinal current measurement, genetic variants, CFTR gene, CFTR protein


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