Biomaterial Database

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. 1998

J E Mickle, and G R Cutting

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Cystic fibrosis (CF) phenotypes are determined by mutations in the CF gene, genetic background, and environment. The nature of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation determines the extent of protein function. CFTR mutations that abolish protein function are associated with severe CF phenotypes. Mutants that retain partial function of CFTR are associated with mild phenotypes. The effect of CFTR dysfunction is variable in different tissues. Atypical phenotypes caused by mutations in the CF gene may be revealed by CFTR mutation analysis and family studies. These phenotypes help to define the spectrum of clinical manifestations caused by CFTR mutations.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D003550	Cystic Fibrosis	An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.	Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017354	Point Mutation	A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.	Mutation, Point,Mutations, Point,Point Mutations
D019005	Cystic Fibrosis Transmembrane Conductance Regulator	A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)	CFTR Protein,Chloride channels, ATP-gated CFTR,Chloride channels, ATP gated CFTR,Protein, CFTR