[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
Cystic fibrosis (CF) is caused by mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CF is characterised by chronic lung infections, pancreas insufficiency and, in males, congenital bilateral absence of the vas deferens (CBAVD). Furthermore, mutations in the CFTR are associated with several isolated, CF-related symptoms such as chronic lung diseases, CBAVD idiopathic pancreatitis and asthma. These patients have a higher frequency of CFTR mutations than unaffected individuals. The mutations found are not typical for the CF patients and are classified as mild mutations. One of these mutations (IVS8-5T) is frequently found in patients with the CF-related diseases, and in particular in patients with CBAVD. When a CFTR mutation is identified, genetic counselling and a mutation analysis should be offered to the relevant family members.
Schwartz
Marianne
M
Klinisk Genetisk Afdeling, H:S Rigshospitalet, DK-2100 København ø.
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator