Table 1

Breakdown of number of CFTR mutations in all subjects and according to presenting phenotype

CFTR mutationsTwo CF-causing mutations
012
All subjects (n=208)73 (35.1%)44 (21.2%)91 (43.7%)10 (4.8%)
RESP (n=72)39 (54.2%)17 (23.6%)16 (22.2%)4 (5.6%)
PANC (n=44)22 (50%)10 (22.7%)12 (27.3%)2 (4.5%)
AZOOSP (n=92)12 (13%)17 (18.5%)63 (68.5%4 (4.3%)
  • AZOOSP, obstructive azoospermia; CFTR, cystic fibrosis transmembrane conductance regulator; PANC, idiopathic recurrent acute or chronic pancreatitis; RESP, idiopathic sinopulmonary disease.