Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

Cystic fibrosis (CF [MIM: 219,700]) was an early Mendelian condition for which the underlying gene – cystic fibrosis transmembrane conductance regulator (CFTR) – was mapped and sequenced [1]. This allowed recognition that CFTR variants severely reduced function of the CFTR protein, an ion channel that spans the membrane of epithelial cells. Individuals with CF typically exhibit multi-organ di sease and the majority experiences substantial morbidity and early mortality due to respiratory failure [2].

Source: Journal of Cystic Fibrosis - November 12, 2021 Category: Respiratory Medicine Authors: Karen S Raraigh, Melis A Aksit, Kurt Hetrick, Rhonda G Pace, Hua Ling, Wanda O'Neal, Elizabeth Blue, Yi-Hui Zhou, Michael J Bamshad, Scott M Blackman, Ronald L Gibson, Michael R Knowles, Garry R Cutting Source Type: research