The c.3274T&gt; 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

Abstract

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.

Highlights

In 2019, about 80,000 patients were registered as having cystic fibrosis (CF) in the United States and Europe [1]
CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR)
The diagnosis of CF with molecular biology techniques is based on the recommendations of the “Cystic Fibrosis Foundation” that uses the “CFTR2 project database” [11,12,13]

Summary

Introduction

In 2019, about 80,000 patients were registered as having cystic fibrosis (CF) in the United States and Europe [1]. 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. The clinical diagnosis of CF during adulthood is a difficult because: 1) the vast majority of patients do not undergo neonatal screening, especially in Peru; 2) systemic manifestations are usually infrequent; and 3) bronchiectasis-like lung lesions and chronic respiratory symptoms due to functional compromise are usually considered as pulmonary tuberculosis or as secondary lesions [2].

Results

Conclusion