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

• Autores: Pecho-Silva, Samuel, Navarro-Solsol, Ana C.
• Formato: artículo
• Fecha de Publicación: 2021
• Institución: Universidad Nacional Hermilio Valdizan
• Repositorio: Revistas - Universidad Nacional Hermilio Valdizán
• Lenguaje: inglés
• OAI Identifier: oai:revistas.unheval.edu.pe:article/1008
• Enlace del recurso: http://revistas.unheval.edu.pe/index.php/repis/article/view/1008
• Nivel de acceso: acceso abierto
• Materia: fibrosis quistica; bronquiectasias; mutacion c.3274T>C; cystic fibrosis; bronchiectasis; C.3274T> C mutation

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.