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Case Reports
. 2020 Aug;47(8):6463-6469.
doi: 10.1007/s11033-020-05677-z. Epub 2020 Jul 31.

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions

Thaiane Rispoli  1   2 , Grazielle Motta Rodrigues  3   4 , Mayara Jorgens Prado  5   3 , Leonardo Araújo Pinto  6 , Marcelo Tadday Rodrigues  7 , Cynthia Rocha Dullius  7 , Tarciana Grandi  3 , Cláudia Maria Dornelles da Silva  3 , José Eduardo Vargas  8 , Maurício Menegatti Rigo  9 , Maria Lucia Rossetti  5   10
Affiliations
Case Reports

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions

Thaiane Rispoli et al. Mol Biol Rep. 2020 Aug.

Abstract

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 with c.1000C>T (legacy name: R334W) variant (pathogenic, CF-causing) and the novel variant (S511Lfs*2). We verified the amino acid sequence, the protein structure, and predicted the pathogenicity employing computational analysis. Our findings showed that S511Lfs*2 is a frameshift variant and suggest that it is associated with severe CF phenotype, as it leads to a lack of CFTR protein synthesis, and consequently the loss of its functional activity.

Keywords: CFTR gene; CFTR protein; Cystic fibrosis; Frameshift variant; S511Lfs*2 variant.

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