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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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Last modified: February 6, 2002