CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A > G mutation

Cystic fibrosis (CF) is caused by loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a cAMP-activated chloride channel expressed in the lungs, pancreas and other tissues [1, 2]. More than 2000 CFTR gene variants have been identified, with>300 associated with CF of varying severity [1, 3]. Although F508del is the most prevalent mutation in Europe and the US, there is considerable regional variability in many CFTR mutations [4]. The c.3700A>G mutation is a relatively common CF-causing mutation in the Middle East [5 –8], present in nearly all CF subjects in Qatar and ~11% of CF subjects in Saudi Arabia.

Source: Journal of Cystic Fibrosis - July 13, 2020 Category: Respiratory Medicine Authors: Puay-Wah Phuan, Peter M. Haggie, Joseph A. Tan, Amber A. Rivera, Walter E. Finkbeiner, Dennis W. Nielson, Merlin M. Thomas, Ibrahim A. Janahi, Alan S. Verkman Source Type: research