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Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.

Genes - 28 Aug 2023

Kondratyeva Elena, Melyanovskaya Yuliya, Efremova Anna, Krasnova Mariya, Mokrousova Diana, Bulatenko Nataliya, Petrova Nika, Polyakov Alexander, Adyan Tagui, Kovalskaia Valeriia, Bukharova Tatiana, Marakhonov Andrey, Zinchenko Rena, Zhekaite Elena, Buhonin Artem, Goldshtein Dmitry

Abstract excerpt

The intricate nature of complex alleles presents challenges in the classification of CFTR gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international databases, with its pathogenicity yet to be established. Assessing the functionality of apical membrane ion channels in intestinal epithelium employed...

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Identifiers

PMID: 37761847
DOI: 10.3390/genes14091705
PMCID: PMC10530926

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