Article
Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.
Molecular biology reports - 1 Aug 2020
Rispoli Thaiane, Rodrigues Grazielle Motta, Prado Mayara Jorgens, Pinto Leonardo Araújo, Rodrigues Marcelo Tadday, Dullius Cynthia Rocha, Grandi Tarciana, da Silva Cláudia Maria Dornelles, Vargas José Eduardo, Rigo Maurício Menegatti, Rossetti Maria Lucia
Abstract excerpt
Cystic fibrosis (CF) is a genetic disease caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are over 2,000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. In this work, we identified a novel variant S511Lfs*2 in CFTR gene that has not been reported in patients with CF. The patient was a female genotyped...
Topics
- Adult
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Frameshift Mutation
- Humans
- Phenotype
- Young Adult