Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis

To assess the frequency of cysticfibrosis transmembrane conductance regulator (CFTR) gene mutations inpatients with allergic bronchopulmonary aspergillosis (ABPA). Case-control study. All subjects in the study werescreened for the presence of 13 mutations in the CFTR gene (R117H,621 + 1G->T, R334 W, ΔF508, ΔI507, 1717–1G->A, G542X, R553X, G551D, R1162X, 3849 + 10kbC->T, W1282X, and N1303K). Moreover, theywere also screened for the presence of the 5T variant in intron 8. University hospital and community-basedhospital. Twenty-one white patients with ABPA participated in the study. The presence of CFTR mutations was alsoinvestigated in 43 white subjects with allergic asthma who did not showsensitization to Aspergillus fumigatus and in 142subjects seeking genetic counseling for diseases other than cysticfibrosis (CF). Six patients with ABPA werefound to be heterozygous for one CFTR mutation, including ΔF508(n = 2), G542X (n = 1), R1162X (n = 1), 1717–1G->A (n = 1),and R117H (n = 1). The 5T allele was not detected in ABPA patients. None of the ABPA patients showed sweat chloride concentrations > 60mEq/L. The frequency of CFTR mutation carriers was significantly higherin ABPA patients (6 of 21 patients; 28.5%) than in control asthmaticsubjects (2 of 43 subjects; 4.6%; p = 0.01) and in subjects seekinggenetic counseling (6 of 142 subjects; p < 0.001). These findings indicate that in patientswith out a clinical diagnosis of CF, CFTR gene mutations could beinvolved in the development of ABPA, in association with other geneticor environmental factors.