Patient number | CFTR genotype | Carbachol (% reverse signal) | Response to | Interpretation | |||
cAMP | DIDS + histamine (% rev. signal) | Residual chloride conductance | Sensitivity to DIDS | cAMP response | |||
Out-of-frame deletion | |||||||
1 | CFTRdele2,3(21 kb)/CFTRdele2,3(21 kb) | 100 | None | 100 | No | No | No |
Nonsense mutation | |||||||
2 | R553X/R553X | 100 | None | 100 | No | No | No |
3 | R1162X/R1162X | 0 | Yes | 40 | Yes | Yes | Yes |
4 | R1162X/R1162X | 45 | Yes | 90 | Yes | Yes | Yes |
Splice-site mutation | |||||||
5 | 1898+3 A-G/1898+3 A-G | 0 | Intermediate | 0 | Yes | No | Yes |
6 | 3849+10 kb C-T/3849+10 kb C-T | 70 | Minute | 70 | Yes | No | Yes |
7 | 3849+10 kb C-T/3849+10 kb C-T | 100 | Minute | 100 | Minute | No | Yes |
In-frame deletion | |||||||
8 | CFTRdele2(ins186)/CFTRdele2(ins186) | 100 | Small | 100 | Small | Yes† | Yes |
9 | CFTRdele2(ins186)/CFTRdele2(ins186) | 100 | None | 100 | No | No | No |
10 | CFTRdele2(ins186)/CFTRdele2(ins186) | 40 | Small | 40 | Yes | No | Yes |
Missense mutation | |||||||
11 | E92K/E92K | 40 | Small | 50 | Yes | No | Yes |
12 | G314E/G314E | 0 | Intermediate | 0 | Yes | No | Yes |
13 | L997F/L997F | 0 | Normal | 0 | Yes | No | Yes |
14 | W1098L/W1098L | 40 | Small | 40 | Yes | No | Yes |
15 | M1101K/M1101K | 30 | Intermediate | 70 | Yes | Yes | Yes |
16 | M1101K/M1101K | 0 | Intermediate | 30 | Yes | Yes | Yes |
17 | M1101K/M1101K | 50 | Small | 100 | Yes | Yes | Yes |
Non-CF* | 0 | Normal | 0 | Yes | No | Yes | |
>20 μA/cm2 | >20 μA/cm2 | >20 μA/cm2 | |||||
CF* | 0–100 | None/small | 0–100 | Yes or no | Yes or no | Yes or no | |
(All patients) | <10 μA/cm2 | <5 μA/cm2 | <10 μA/cm2 | ||||
Subgroups: | |||||||
CF* | 90–100 | None | 90–100 | No | No | No | |
(no residual chloride secretion) | <0 μA/cm2 | <1 μA/cm2 | <0 μA/cm2 | ||||
CF* | 0–90 | Small | 0–90 | Yes | No | Yes | |
(residual chloride secretion) | 0–10 μA/cm2 | <5 μA/cm2 | 0–10 μA/cm2 | ||||
CF* | 0–100 | None/small</p> | 100 | Yes | Yes | Yes or no | |
(alternative chloride secretion) | <10 μA/cm2 | <5 μA/cm2 | <0 μA/cm2 |
*Range and threshold of values for the different categories are based on previously published data (summarised in De Jonge et al4).
†cAMP response sensitive to DIDS in patient 8.