Cases with one mutation |
I | 155–158 del 4 bp | 2 | Premature Stop | 1 | Low | Low | Sporadic | 16 Case |
II | 1494 del A | 11 | Frameshift | 8 | Low | Normal | 2 patients and 1 unaffected brother | 23 Fam 3 |
III | 2940 C/T | 19 | 956 Thr→Met | 16 | Normal | High | Mother carrier without HUS | 24 HUS 12 |
IV | 3429 A/G | 22 | 1119 Asp→Gly | 19 | Normal | Normal | Sibling HUS | 28 Case 2 |
V | 3620 T/C | 23 | 1183 Trp→Arg | 20 | Normal | Normal | Brother with aHUS | 35 Case rep |
VI | 3621 G/T | 23 | 1183 Trp→Leu | 20 | Low | High | n.r. | 24, 35 HUS 2 |
VII | 3624 C/G | 23 | 1184 Thr→Arg | 20 | Low | Normal | Sporadic | 28 Case 4 |
VIII | 3639 T/G | 23 | 1189 Leu→ Arg | 20 | Normal | High | Father mutation negative | 24 HUS 11 |
IX | 3654 G/A | 23 | 1194 Gly→Asp | 20 | n.r. | n.r. | n.r. |
36
|
X | 3663 T/C | 23 | 1197 Val→Ala | 20 | Low | Low | Sporadic | 23 nap |
XI | 3701 C/T | 23 | 1210 Arg→Cys | 20 | Normal. | Normal | Father and 2/5 siblings carriers, no HUS | 23 R 16 |
XII | 3701 C/T | 23 | 1210 Arg→Cys | 20 | Low | Normal/High | Siblings with HUS, father carrier | 23 Fam 24 |
XIII | 3701 C/T | 23 | 1210 Arg→Cys | 20 | Low. | Normal | 5 other (healthy) carriers including sister and father |
29
|
XIV | 3716 C/G | 23 | 1215 Arg to Gly | 20 | Normal | Normal | Sporadic | 6, 28 Case 3 |
XV | 3717 C/A | 23 | 1215 Arg→Gln | 20 | Low | Normal | Carriers: father and grandfather | 23 Fam 1 |
XVI | del 24 bp* | 23 | Premature Stop | 20 | Low | Low | Autosomal recessive | 23 Fam 29 |
Cases with two mutations |
XVII | 3299 C/G and | 21 | 1076 Gln→Glu | 18 | n.r. | n.r. | Sporadic | 28 Case 1 |
| 3559 del A | 22 | Frame shift | 19 | | | | |
XVIII | 3645 C/T** and | 23 | 1191 Ser→Leu | 20 | n.r. | n.r. | Mother HUS | 28 Case 5 |
| 3663 T/C** | 23 | 1197 Val→Ala | 20 | | | | |
XIX | 3663 T/C* and | 23 | 1197 Val→Ala | 20 | Low | Low | n.r. | 24 HUS 3 |
Partial deletion*** |