title: A Novel Missense Mutation, R1283S, of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in a 47-Year-Old African-American Patient.
abstract: Background: More than 600 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described; however, at least 50% of the disease-associated mutations in the African-American population remain unknown. Reported here is a novel missense mutation, R1283S, in a 47-year-old African-American patient with mild cystic fibrosis. Methods and Results: The patient was screened for 27 common and less common CFTR mutations and 2 mutations were detected. Direct sequencing confirmed the presence of the DeltaF508 mutation and revealed the presence of a novel missense mutation, R1283S. Conclusions: R1283S appears to be a cystic fibrosis mutation associated with mild disease, and adds to the number of known mutations in African-Americans. R1283S can be confused with the more common mutation, W1282X, when polymerase chain reaction-restriction fragment length polymorphism analysis is used for detection.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
authors.initials: YL
authors.lastname: Wang
authors.initials: KL
authors.lastname: Chen
authors.initials: I
authors.lastname: Joshi
authors.initials: RM
authors.lastname: Kotloff
authors.initials: DG
authors.lastname: Leonard
authors.initials: RB
authors.lastname: Wilson