From: The true panel of cystic fibrosis mutations in the Sicilian population
CFTR Genotype | Male patient | Female patient | Total | References | ||
---|---|---|---|---|---|---|
Heterozygous for pathogenic mutation | D110H/N | 0 | 1 | 1 | ||
M952I/N | 2 | 1 | 3 | |||
R74W/N | 3 | 2 | 5 | |||
S945L/N | 1 | 0 | 1 | |||
D1270N/ N | 2 | 0 | 2 | |||
D110E/N | 1 | 1 | 2 | |||
G1244E/N | 0 | 1 | 1 | |||
c.2490+2T>C/N | 3 | 1 | 4 | |||
L206W/N | 1 | 0 | 1 | |||
G1069R/N | 3 | 0 | 3 | |||
F1052V/N | 5 | 3 | 8 | |||
621+3A>G/N | 1 | 0 | 1 | |||
P5L/N | 0 | 1 | 1 | |||
R334Q/N | 1 | 0 | 1 | |||
3659delC/N | 1 | 0 | 1 | |||
R553X/N | 2 | 0 | 2 | |||
F508del/N | 16 | 6 | 22 | |||
D1152H/N | 1 | 0 | 1 | |||
W1282X/N | 2 | 0 | 2 | |||
N1303K/N | 2 | 1 | 3 | |||
G542X/N | 3 | 1 | 4 | |||
2183AA→G/N | 1 | 0 | 1 | |||
CFTRdele22,23/N | 1 | 0 | 1 | |||
Total | 52 | 19 | 71 | |||
HM | D1270N/D1270N | 1 | 0 | 1 | ||
Total | 1 | 0 | 1 | |||
HE | G542X/F1052V | 1 | 0 | 1 | ||
Total | 1 | 0 | 1 | |||
Mutation/ polyT-polyTG | F508del/N-TG12; 5T | 1 | 0 | 1 | ||
F1052V/N- TG12; 5T | 1 | 0 | 1 | |||
Total | 2 | 0 | 2 | |||
Pathogenic CA | R74W; D1270N;V201M/N | 1 | 1 | 2 | ||
F508del; A238V/N | 1 | 0 | 1 | |||
D1270N; R74W/N | 2 | 0 | 2 | |||
Total | 4 | 1 | 5 | |||
polyT-polyTG | TG12; 5T | 48 | 6 | 54 | ||
Total | 48 | 6 | 54 | |||
Non-Pathogenic CA | R75Q;P1290P;4251G/A/N | 1 | 0 | 1 | ||
G576A;R668C/N | 6 | 0 | 6 | |||
Total | 7 | 0 | 7 | |||
VUS | VUS^{a} | T582S/N | 1 | 1 | 2 | [7] |
Y1073C/N | 1 | 0 | 1 | [7] | ||
T760M/N | 1 | 0 | 1 | [7] | ||
E528K/N | 1 | 0 | 1 | [7] | ||
Y1092C/N | 1 | 0 | 1 | [7] | ||
D1445N/N | 3 | 0 | 3 | |||
c.1633G>A/N | 1 | 0 | 1 | [24] | ||
S18G/N | 2 | 0 | 2 | |||
c.26C>T/N | 2 | 0 | 2 | |||
L223F/N | 1 | 0 | 1 | [24] | ||
c.1806C>A/N | 1 | 0 | 1 | [24] | ||
c.3710G>A/N | 1 | 0 | 1 | |||
c.5282delA/N | 2 | 0 | 2 | [24] | ||
c.622-116A>G/N | 1 | 0 | 1 | [24] | ||
E528K | 1 | 0 | 1 | |||
Y84H/N | 1 | 0 | 1 | |||
G1130A/N | 1 | 0 | 1 | |||
VUS 1 | 712-92T>A/N | 1 | 0 | 1 | ||
1898+73 T>G/N | 2 | 1 | 3 | |||
R74Q/N | 0 | 1 | 1 | |||
VUS 2 | S42F/N | 1 | 1 | 2 | ||
VUS 3 | M348K/N | 4 | 0 | 4 | ||
K68E/N | 1 | 0 | 1 | |||
A959V/N | 1 | 1 | 2 | |||
D192G/N | 1 | 0 | 1 | |||
VUS 4 | c.1762G>A/N | 0 | 1 | 1 | ||
Y301C/N | 1 | 0 | 1 | |||
V201M/N | 2 | 0 | 2 | |||
E1409K/N | 0 | 1 | 1 | |||
L137P/N | 1 | 0 | 1 | |||
c.1495C>T/N | 1 | 0 | 1 | |||
Total | 38 | 6 | 44 |