Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the molecular defect, CFTR mutations can result in no functional CFTR protein expression because of premature stop codons, frameshifts for deletions or insertions (class I), or a CFTR trafficking defect caused by intracellular degradation of misfolded protein (class II). Other mutations can result in CFTR protein expression but defective channel regulation or gating (class III), reduced chloride conductance (class IV), reduced synthesis (class V), or decreased stability of CFTR (class VI). #Pharm #Pathophys #Pulm #Peds #CysticFibrosis #Mutations #CFTR #ModulatorTherapy #NEJM
