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

Respiratory Research

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

	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	+/-^§	+++	++

^*'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.

ISSN: 1465-993X