The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition

Samuel Pecho-Silva; Ana C. Navarro-Solsol

doi:10.35839/repis.5.2.1008

Autores

Samuel Pecho-Silva Hospital Nacional Edgardo Rebagliati Martins, Lima, Perú; Universidad Científica del Sur, Lima, Perú https://orcid.org/0000-0002-7477-9841
Ana C. Navarro-Solsol Universidad Nacional de Ucayali, Pucallpa, Perú https://orcid.org/0000-0001-8983-4324

DOI:

https://doi.org/10.35839/repis.5.2.1008

Palavras-chave:

cystic fibrosis, bronchiectasis, C.3274T> C mutation

Resumo

CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.

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