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Table 1 Hierarchy of associations with mutations in the cystic fibrosis transmembrane regulator gene

From: 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

  Genetic/other influences
Phenotypes associated with CFTR mutations CFTR Non-CFTR gene modifiers Environment
'Atypical' CF*    
   CBAVD +++ + +
   Mild pulmonary disease +++ + +
   ICP +++ + +
Associated with mutations in CFTR    
   Sinusitis + ++ +
   ABPA + ++ +++
   Asthma +/-§ +++ ++
  1. *'Atypical' cystic fibrosis (CF) is associated with two mutations in CFTR (often one 'mild' and one 'severe'), together with CFTR dysfunction. Excluding other forms of genetic-linked idiopathic chronic pancreatitis (ICP). Associated with one mutation in CFTR, without CFTR dysfunction, but predominantly influenced by non-CFTR gene modifiers and nongenetic environmental factors. §Evidence for involvement with mutated CFTR is weak; other factors are mainly responsible for expression of disease. The number of '+' symbols indicates the strength of the association.