Breakdown of CFTR mutations in all subjects
| Groups | N | No of CFTR mutations* | Two CF-causing mutations† | ||||
|---|---|---|---|---|---|---|---|
| 0 | 1 | 2 | Consensus | CFTR2‡ | Both§ | ||
| RESP | 68 | 37 (54.4%) | 15 (22.1%) | 16 (23.5%) | 3 (4.4%) | 1 (1.5%) | 4 (5.9%) |
| PANC | 42 | 21 (50%) | 9 (21.4%) | 12 (28.6%) | 2 (4.8%) | 0 | 2 (4.8%) |
| AZOOSP | 92 | 12 (13%) | 17 (18.5%) | 63 (68.5%) | 2 (2.2%) | 9 (9.8%) | 11 (12%) |
| All undiagnosed symptomatic subjects | 202 | 70 (34.7%) | 41 (20.3%) | 91 (45%) | 7 (3.5%) | 10 (4.9%) | 17 (8.4%) |
| CONTROL | 104 | 84 (80.8%) | 18 (17.3%) | 2 (1.9%) | 0 | 0 | 0 |
| HETERO | 52 | 0 | 47 (90.4%) | 5 (9.6%) | 0 | 0 | 0 |
| CFPS | 64 | 1 (1.5%) | 9 (14.1%) | 54 (84.4%) | 18 (28.1%) | 11 (17.2%) | 29 (45.3%) |
| CFPI | 43 | 1 (2.3%) | 1 (2.3%) | 41 (95.4%) | 37 (86%) | 2 (4.7%) | 39 (90.7%) |
*Subjects with none, one or two CFTR mutations.
†Subjects with CF-causing mutations on both alleles.
‡Additional subjects with two CF-causing mutations following expansion of the list of CF-causing mutations from 23 (consensus) to 122 (CFTR2) mutations.
§Subjects with two CF-causing mutations based upon consensus plus CFTR2.
AZOOSP, obstructive azoospermia; CF, cystic fibrosis; CFPI, pancreatic insufficient; CFPS, pancreatic sufficient; CONROL, healthy controls; HETERO, heterozygotes; PANC, chronic/recurrent pancreatitis; RESP, chronic sino-pulmonary disease.