Background
Methods
CFTR scanning for individuals with p.I148T or [p.D1270N;p.R74W]
Nomenclature
Results
A CF mutation (c.3199del6 or c.3395insA) is associated in ciswith p.I148T in CF patients
Indiv No. | Age at Diagnosis | Phenotype | CFTR Mutations | CFTR haplotype | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
IVS1 | IVS8 | IVS8 | IVS8 | 470 | IVS17B | IVS17B | EGHa
| ||||
CA | CA | TGm | Tn | TA | CA | ||||||
CF1 | 7 yrs | CF-PI | c.394delTT | 21 | 23 | 10 | 9 | M | 36 | 13 | B |
c.3199del6 | 22 | 16 | 11 | 7 | V | 7 | 17 | C | |||
CF2 | 10 yrs | CF-PS |
[c.3395insA;p.I148T]
|
21
|
23
|
10
|
9
|
M
|
7
|
17
|
B
|
p.R334W | 22 | 17 | 11 | 7 | V | 46 | 13 | A | |||
CF3 | 6 ms | CF-PI |
[c.3199del6;p.I148T]
|
21
|
23
|
10
|
9
|
M
|
7
|
17
|
B
|
p.F508del | 21 | 23 | 10 | 9 | M | 31 | 13 | B | |||
CF4 | 3 yrs | CF-PI |
[c.3199del6;p.I148T]
|
22
|
23
|
nd
|
9
|
M
|
7
|
17
|
B
|
p.F508del | 22 | 17 | nd | 9 | M | 31 | 15 | B | |||
CF5 | 6 ms | CF-PI |
[c.3199del6;p.I148T]
|
22
|
23
|
nd
|
9
|
M
|
7
|
17
|
B
|
p.F508del | 22 | 23 | nd | 9 | M | 31 | 13 | B |
Mutation c.3199del6 can also occur alone as a CF-causing allele
Triple-mutant allele [p.R74W;p.V201M;p.D1270N] is found in males with CBAVD whereas double-mutant allele [p.R74W;p.D1270N] is found in asymptomatic individuals
Mutations | Haplotype | |||||||
---|---|---|---|---|---|---|---|---|
IVS1 | IVS8 | IVS8 | IVS8 | 470 | IVS17B | IVS17B | ||
CA | CA | TGm | Tn | TA | CA | |||
CBAVD1 | p.R1066C | 22 | 16 | 11 | 7 | V | 30 | 13 |
[p.R74W;p.V201M;p.D1270N]
|
22
|
16
|
11
|
7
|
V
|
31
|
13
| |
CBAVD2 | p.M952I | 26 | 17 | 10 | 7 | M | 7 | 17 |
[p.R74W;p.V201M;p.D1270N]
|
22
|
16
|
11
|
7
|
V
|
31
|
13
| |
CBAVD3 |
[p.R74W;p.V201M;p.D1270N]
|
22
|
16
|
11
|
7
|
V
|
31
|
13
|
[p.R74W;p.V201M;p.D1270N]
|
22
|
16
|
11
|
7
|
V
|
31
|
13
| |
Individual non affected with CF | ||||||||
No mutation | 21 | nd | 10 | 7 | M | 7 | 17 | |
[p.R74W;p.D1270N]
|
22
| nd |
11
|
7
|
V
|
30
|
13
| |
Asymptomatic mother of a CF affected girl | ||||||||
p.P67L | 23 | 16 | 10 | 7 | M | 7 | 17 | |
[p.R74;p.D1270N]
|
22
|
16
|
11
|
7
|
V
|
31
|
13
|