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CLASSIC CF:
| MUTATION1 |
FEV1%
PREDICTED |
%
PANCREATIC SUFFICIENT (n) |
SWEAT
CHLORIDE CONCENTRATION IN mM (n) |
AGE
AT DIAGNOSIS IN
YEARS (n) |
REFERENCE |
| 621+1 GT |
73 ± 26 (41) |
2.0 (51) |
100 ± 20 (22) |
0.8 ± 1.1 (51)* |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| R347P2 |
not reported |
8 (12) |
114 (9) |
not reported |
(Howard et al., 1996) |
| F508 |
70 ± 27 (269) |
2.5 (396) |
106 ± 22 (328) |
1.7 ± 3.0 (392) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| 1717-1 GA |
68 ± 26 (20) |
3.3 (30) |
107 ± 36 (26) |
2.0 ± 4.4 (28) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| G542X |
67±27(81) |
0 (147) |
109 ± 23 (128) |
1.6 ± 3.1 (147) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| S549R(TG) 3 |
not reported |
9 (16) |
117 ± 25 (14) |
0.9 ± 1.0 (16) |
(Romey et al., 1999) |
| 551D |
65 ± 24 (61) |
1.4 (73) |
101 ± 16 (58) |
1.9 ± 2.8 (79) |
(Hamosh et al.,
1992a) |
| R553X |
64 ± 25 (36) |
2.0 (51) |
105 ± 18 (46) |
1.7 ± 2.7 (52) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| 1811+1.6kb
AG4 |
65 ± 25 (17) |
0(17) |
98 ± 12 (17) |
2.8 ± 4 (17) |
(Chillón et
al., 1995b) |
| R1066C5 |
64 ± 23 (15) |
0 (21) |
112 ± 29 (18) |
26 ± 4.0 (21) |
(Casals et al., 1997a) |
| W1282X |
75 ± 26 (12) |
0 (16) |
110 ± 18 (13) |
4.0 ± 9.9 (17) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| N1303K |
69 ± 24 (42) |
0 (59) |
104 ± 24 (56) |
1.5 ± 2.7 (58) |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
NON-CLASSIC
CF:
| MUTATION1 |
FEV1%
PREDICTED |
%
PANCREATIC SUFFICIENT (n) |
SWEAT
CHLORIDE CONCENTRATION IN mM (n) |
AGE
AT DIAGNOSIS IN
YEARS (n) |
REFERENCE |
| -102TA+
S549R(TG)
6 |
not reported |
50 (6)* |
79 ± 27 (5) |
9.0 ± 13 (6) |
(Romey et al.,
1999) |
| P67L2 |
not reported |
77 (12) |
57 ± 9 (12) |
22.5 ± 11.3 (12) |
(Gilfillan et al., 1998) |
| G85E7 |
80 ± 8 (6) |
31 (13)** |
107 ± 4 (5) |
4.2 ± 4.7 (13)* |
(Vazquez et al.,
1996) |
| R117H |
73±22 (22) |
87 (23)*** |
82 ± 19 (20)*** |
10.2 ± 10.5 (23)** |
(Cystic Fibrosis
Genotype/Phenotype Consortium 1993) |
| R334W |
61±29 (6) |
40 (10)*** |
108 ± 19 (10) |
6.3 ± 7.0 (10) |
(Estivill et
al., 1995) |
| A455E8 |
74±26 (29)** |
79 (33)*** |
not reported |
15.0 ± 10.6 (33)*** |
(Gan et al., 1995) |
| A455E |
85±19 (9)** |
78 (9)* |
79 ± 19 (9) ** |
5.7 ± 4.8 (9)** |
(De Braekeleer
et al., 1997) |
| 3272 - 26 AG2 |
63 (5) |
80 (5) |
105 (5) |
14.7 (5) |
(Beck et al., 1999) |
| 3849+10kb CT2,9 |
63 (10) |
73 (11) |
40 (11) |
not reported |
(Highsmith, Jr.
et al., 1994) |
| 3849+10kb CT2,10 |
51±20 (14) |
67 (15) |
62 ± 17 (14) |
12.5 ± 8.8 (15) |
(Augarten et al., 1993) |
1 Patients
carried F508 on their other CF chromosome unless
indicated and phenotype features were compared to
age- and sex- matched F508 homozygotes from the
same treatment center *
p<0.05; ** p<0.01; ***
<0.001
2 Statistical
comparison with F508 homozygotes was
not performed
3 Patients
carried S549R (TG) on their other CF chromosome
4 Patients
carried mutations F508, I507, 1609 del CA, G542X,
K710X and N1303K on their other CF chromosome
5 Patients
carried F508 (14), R1066 (2), R334W (1),
G542X(1), 712-1G>T (1) and 3905insT(1) on
their other CF chromosome
6 Patients
carried -102TA + S549R(1), R334W(1), F508(2),
G542X(1) or S945L on their other CF chromosome
7 Patients
carried F508(9), I507(2), 712-1GT(1) or G85E(1)
on their other CF chromosome
8 Patients
carried F508(25), E60X(4), G542X(2), R553X(1) or
1717-1GA(1) on their other CF chromosome
9 Patients
carried F508(9) or W1282X(2) on the other CF
chromosome
10 Patients
carried F508(5), W1282X(5), G85E(1) or unknown(4)
on their other CF chromosome
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