Table 5.
Distribution of patients for the CFTR gene genotype and classes of identified mutations*.
| Genotype | N | Group of patients with cystic fibrosis |
|---|---|---|
| Unknown/unknown | 137 | 169/408 (41.4%) patients with unknown mutation in the CFTR gene, or with one or two mutations in the CFTR gene belonging to classes IV, V, or VI |
| V562I/unknown | 1 | |
| G576A/R668C | 3 | |
| p.Glu528G > A/TG11-5T | 3 | |
| R334W/R334W | 1 | |
| D110H/V232H | 1 | |
| I507V/unknown | 2 | |
| D614G/unknown | 4 | |
| F508del/unknown | 61 | 87/408 (21.3%) patients with mutation in the CFTR gene belonging to class I, II, or III, and unknown mutation or one mutation in the CFTR gene belonging to class IV, V, or VI |
| G542X/unknown | 6 | |
| G542X/P205S | 2 | |
| G542X/R334W | 2 | |
| 622-2 A > G/711 + 1G > T | 1 | |
| G542X/I618T | 3 | |
| 3120+ 1G > A/L206W | 3 | |
| F508del/D1152H | 2 | |
| F508del/R334W | 2 | |
| R1066C/R334W | 1 | |
| F508del/P205S | 3 | |
| R1162X/unknown | 1 | |
| F508del/F508del | 88 | 152/408 (37.3%) patients with two mutations identified in the CFTR gene belonging to class I, II, and/or III |
| F508del/G542X | 22 | |
| F508del/N1303K | 8 | |
| F508del/R1162X | 8 | |
| F508del/R553X | 5 | |
| F508del/1584-18672pbA > G | 4 | |
| F508del/c.1717 − 1G > A | 3 | |
| 3120 + 1G > A/R1066C | 3 | |
| F508del/2183AA > G | 1 | |
| F508del/2184insA | 1 | |
| F508del/6B to 16 exon duplication | 2 | |
| F508del/G85E | 2 | |
| F508del/S549R (T > G) | 2 | |
| G542X/2183AA > G | 1 | |
| G542X/R1162X | 2 | |
| F508del/S4X | 3 | |
| F508del/R1066C | 4 | |
| F508del/1812 − 1G > A | 4 | |
| R1162X/R1162X | 4 | |
| 2183AA > G/2183AA > G | 2 | |
| 3120 + 1G > A/3120 + 1G > A | 1 |
F508del/other mutation = 136/408 (33.3%); F508del/F508del = 88/408 (21.6%).
CFTR, cystic fibrosis transmembrane regulator; N, sample size.