Article
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
JCI insight - 22 Mar 2022
Raraigh Karen S, Paul Kathleen C, Goralski Jennifer L, Worthington Erin N, Faino Anna V, Sciortino Stanley, Wang Yiting, Aksit Melis A, Ling Hua, Osorio Derek L, Onchiri Frankline M, Patel Shivani U, Merlo Christian A, Montemayor Kristina, Gibson Ronald L, West Natalie E, Thakerar Amita, Bridges Robert J, Sheppard David N, Sharma Neeraj, Cutting Garry R
Abstract excerpt
The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (legacy: F508del) and a deletion variant in an ivacaftor binding region of CFTR (p.Phe312del; legacy: F312del) manifested only elevated sweat chloride concentration...
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