Mild Cystic Fibrosis in Pediatric Patient Found to Be Caused by Rare Gene Mutation
Researchers identified a novel, rare mutation causing cystic fibrosis (CF) in a pediatric African-American patient. The mutation, however, was found to be responsive to the CFTR corrector VX-809, therefore identifying potential personalized therapeutics. The study, “c.3623G > A mutation encodes a CFTR protein with impaired channel function,” was published…