'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between 'severe' mutations in the gene that encodes the cystic fibrosis transmembrane regulator (CFTR) and pancreatic insufficiency. The relationship between 'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, allergic bronchopulmonary aspergillosis, and possibly even asthma may also be associated with mutations in the CFTR gene, but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences.
Noone
P G
PG
Pulmonary Research and Treatment Center, Department of Medicine, University of North Carolina at Chapel Hill, North Carolina 27599-7248, USA. pnoone@med.unc.edu
Knowles
M R
MR
D001229:Aspergillosis, Allergic Bronchopulmonary / Q000235:genetics; D001249:Asthma / Q000235:genetics; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008171:Lung Diseases / Q000235:genetics; D008297:Male; D009154:Mutation / Q000502:physiology*; D010195:Pancreatitis / Q000235:genetics; D010641:Phenotype; D012852:Sinusitis / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator