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Cystic fibrosis gene mutations: evaluation and assessment of disease severity

Authors Vallières E, Elborn J

Received 20 June 2014

Accepted for publication 2 August 2014

Published 21 October 2014 Volume 2014:4 Pages 161—172


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr John Martignetti

Emilie Vallières, Joseph Stuart Elborn

Cystic Fibrosis and Airways Microbiology Research Group, Queens University Belfast, Belfast, UK

Abstract: The cystic fibrosis transmembrane regulator (CFTR) gene encodes an ion channel transporter, the CFTR protein. Since its identification in 1989, more than 1,900 sequence variants have been reported, resulting in a wide spectrum of clinical phenotypes. Cystic fibrosis (CF) is associated with many CFTR mutants and there is a continuum of disease severity observed. Recent advances in fundamental research have increased our understanding of the consequent molecular defect arising from CF mutations. This knowledge has resulted in the development of CF-specific therapies, targeting either the genetic or the molecular defect. CF care, previously focused on symptom control, is therefore moving toward a "stratified" or "precision" therapeutic approach. This review outlines normal CFTR physiology, the proposed pathologic mechanism underlying CF associated-lung injury, classification of CF mutations, and the CF-specific therapies recently approved or in clinical trials.

Keywords: cystic fibrosis, gene mutations, disease severity, evaluation, assessment

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