Table 2.
CHEC-SC participant CFTR genotypes by modulator treatment at enrollment.
| IVA (N=536) | LUM/IVA (N=785) | TEZ/IVA (N=697) | ELE/TEZ/IVA (N=1769) | |
|---|---|---|---|---|
|
| ||||
| F508del with F508del | - | 784 (99.9%) | 626 (89.8%) | 1002 (56.6%) |
| F508del with | 379 (70.7%) | 1 (0.1%) | 53 (7.6%) | 734 (41.5%) |
| G551D | 172 (32.1%) | - | - | 62 (3.5%) |
| Other gating mutation | 24 (4.5%) | - | - | 8 (0.5%) |
| R117H | 63 (11.8%) | - | 1 (0.1%) | 32 (1.8%) |
| Splice mutation | 61 (11.4%) | - | 29 (4.2%) | 46 (2.6%) |
| Missense mutation | 56 (10.4%) | - | 17 (2.4%) | 63 (3.6%) |
| Minimal function mutation | 2 (0.4%) | 1 (0.1%) | 1 (0.1%) | 437 (24.7%) |
| Other mutation | 1 (0.2%) | - | 5 (0.7%) | 86 (4.9%) |
| G551D with | 71 (13.2%) | - | - | 9 (0.5%) |
| G551D | 1 (0.2%) | - | - | - |
| Other gating mutation | - | - | - | - |
| R117H | 3 (0.6%) | - | - | - |
| Splice mutation | 2 (0.4%) | - | - | - |
| Missense mutation | 7 (1.3%) | - | - | - |
| Minimal function mutation | 53 (9.9%) | - | - | 8 (0.5%) |
| Other mutation | 5 (0.9%) | - | - | 1 (0.1%) |
| Other gating mutation with | 11 (2.1%) | - | - | 2 (0.1%) |
| Other gating mu. ation | 1 (0.2%) | - | - | - |
| R117H | - | - | - | - |
| Splice mutation | 1 (0.2%) | - | - | - |
| Missense mutation | - | - | - | 1 (0.1%) |
| Minimal function mutation | 5 (0.9%) | - | - | - |
| Other mutation | 4 (0.7%) | - | - | 1 (0.1%) |
| R117H with | 25 (4.7%) | - | 2 (0.3%) | 6 (0.3%) |
| R117H | - | - | - | - |
| Splice mutation | 2 (0.4%) | - | 2 (0.3%) | 1 (0.1%) |
| Missense mutation | 4 (0.7%) | - | - | - |
| Minimal function mutation | 17 (3.2%) | - | - | 4 (0.2%) |
| Other mutation | 2 (0.4%) | - | - | 1 (0.1%) |
| Splice with | 25 (4.7%) | - | 12 (1.7%) | - |
| Splice mutation | 2 (0.4%) | - | 1 (0.1%) | - |
| Missense mutation | 1 (0.2%) | - | - | - |
| Minimal function mutation | 22 (4.1%) | - | 9 (1.3%) | - |
| Other mutation | - | - | 2 (0.3%) | - |
| Missense mutation with | 22 (4.1%) | - | 4 (0.6%) | 8 (0.5%) |
| Missense mutation | 4 (0.7%) | - | 1 (0.1%) | - |
| Minimal function mutation | 15 (2.8%) | - | 3 (0.4%) | 5 (0.3%) |
| Other mutation | 3 (0.6%) | - | - | 3 (0.2%) |
| Minimal function mutation with | 3 (0.6%) | - | - | 8 (0.5%) |
| Minimal function mutation | - | - | - | 4 (0.2%) |
| Other mutation | 3 (0.6%) | - | - | 4 (0.2%) |
| Other mutations | - | - | - | - |
Most frequent ten mutations by category. Full list of mutations by type can be found in the Supplemental Table S2.
Other gating mutations include: G1244E, G178R, G551S, S1251N, S1255P, S549N, S549R; Splice mutations include: 2789+5G->A, 3272–26A->G, 3849+10kbC->T, 711+3A->G E831X; Missense mutations include: A455E, D1152H, L206W, P67L, R117C, R347H, R352Q, S492F, S945 L, T338I; Minimal function mutations include: 1717–1G->A, 2184insA, 3659delC, 621+1G->T, G542X, I507 del, N1303K, R347P, R553X, W1282X
IVA = ivacaftor; LUM = lumacaftor; TEZ = tezacaftor; ELE = elexacaftor.