title: Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.
abstract: The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene encodes an epithelial ion channel. Although one mutation remains the most common cause of CF (F508del), there have been more than 2000 reported variations in CFTR. For the most part, individuals who carry only one mutation (heterozygotes) have no symptoms; individuals who inherit deleterious mutations from both parents have CF. However, growing awareness of CFTR mutations that do not ever or do not always cause CF, and individuals with mild or single-organ system manifestations of CFTR-related disease have made this Mendelian relationship more complex.
authors.affiliation: Division of Pulmonary & Critical Care Medicine, Department of Medicine, Johns Hopkins University, 1830 E. Monument Street, Baltimore, MD 21205, USA. Electronic address: psosnay@jhmi.edu.
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Sosnay
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, Baltimore, MD 21205, USA.
authors.forename: Karen S
authors.initials: KS
authors.lastname: Raraigh
authors.affiliation: Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, 4800 Sand Point Way, Seattle, WA 98105, USA.
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Gibson
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D010641:Phenotype
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR mutations; Cystic fibrosis; Genotype/phenotype correlations