title: Genetics of Cystic Fibrosis: Clinical Implications.
abstract: Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype.
authors: Department of Pediatrics, Yale School of Medicine, 333 Cedar Street, Fitkin 526, New Haven, CT 06520, USA. Electronic address: marie.egan@yale.edu.
authors: Marie E
authors: ME
authors: Egan
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA
keywords: Corrector; Cystic fibrosis transmembrane conductance regulator protein mutation; Genetic modifier; Potentiator; Read through agent