Genetic defects of VWD type 1 patients
| Patient . | Mutation . | VWF-antigen, U/mL . | Propeptide/VWF ratio, nM/nM . | PNA binding, % of NPP . |
|---|---|---|---|---|
| F1-1/2 | R854Q | 0.37 | 0.24 | 150 |
| F1-1/3* | R854Q | 0.30 | 0.21 | 153 |
| F3-2/1* | R1266L/R1315H | 0.28 | 0.64 | 269 |
| F3-2/3 | R1266L/R1315H | 0.10 | 0.82 | 361 |
| F3-2/4 | R1266L/R1315H | 0.18 | 0.68 | 274 |
| F4-3/2* | R1342C | 0.21 | 0.27 | 167 |
| F6-4/2* | G2518S | 0.51 | 0.36 | 135 |
| F8-5/1* | IVS21 splice | 0.30 | 0.18 | 164 |
| F8-5/4 | IVS21 splice | 0.28 | 0.26 | 117 |
| F8-5/7 | IVS21 splice | 0.21 | 0.24 | 155 |
| F9-6/3* | L2207P | 0.25 | 0.19 | 120 |
| F9-6/6 | L2207P | 0.20 | 0.28 | 130 |
| F10-7/1 | G2441C | 0.20 | 0.38 | 141 |
| F10-7/2* | G2441C | 0.24 | 0.35 | 153 |
| F10-7/3 | G2441C | 0.24 | 0.43 | 155 |
| F10-7/4 | G2441C | 0.24 | 0.46 | 167 |
| LUMC-1* | C2693Y | 0.42 | 0.28 | 191 |
| LUMC-2 | C2693Y | 0.44 | 0.27 | 189 |
| LUMC-3† | C1149R | 0.22 | 0.72 | 245 |
| LUMC-4† | C1149R | 0.35 | 0.52 | 127 |
| Patient . | Mutation . | VWF-antigen, U/mL . | Propeptide/VWF ratio, nM/nM . | PNA binding, % of NPP . |
|---|---|---|---|---|
| F1-1/2 | R854Q | 0.37 | 0.24 | 150 |
| F1-1/3* | R854Q | 0.30 | 0.21 | 153 |
| F3-2/1* | R1266L/R1315H | 0.28 | 0.64 | 269 |
| F3-2/3 | R1266L/R1315H | 0.10 | 0.82 | 361 |
| F3-2/4 | R1266L/R1315H | 0.18 | 0.68 | 274 |
| F4-3/2* | R1342C | 0.21 | 0.27 | 167 |
| F6-4/2* | G2518S | 0.51 | 0.36 | 135 |
| F8-5/1* | IVS21 splice | 0.30 | 0.18 | 164 |
| F8-5/4 | IVS21 splice | 0.28 | 0.26 | 117 |
| F8-5/7 | IVS21 splice | 0.21 | 0.24 | 155 |
| F9-6/3* | L2207P | 0.25 | 0.19 | 120 |
| F9-6/6 | L2207P | 0.20 | 0.28 | 130 |
| F10-7/1 | G2441C | 0.20 | 0.38 | 141 |
| F10-7/2* | G2441C | 0.24 | 0.35 | 153 |
| F10-7/3 | G2441C | 0.24 | 0.43 | 155 |
| F10-7/4 | G2441C | 0.24 | 0.46 | 167 |
| LUMC-1* | C2693Y | 0.42 | 0.28 | 191 |
| LUMC-2 | C2693Y | 0.44 | 0.27 | 189 |
| LUMC-3† | C1149R | 0.22 | 0.72 | 245 |
| LUMC-4† | C1149R | 0.35 | 0.52 | 127 |
*The mutations in these patients have been identified within the European multicenter study Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) and have previously been described by Goodeve et al19 : F1-1/3 = P5F1II3; F3-2/1 = P5F3II2; F4-3/2 = P5F4II1; F6-4/2 = P5F6II3; F8-5/1 = P5F8I3; F9-6/3 = P5F9II2; F10-7/2 = P5F10II1; and LUMC-1 = P6F16II1.
†LUMC-3 and LUMC-4 have previously been reported as IV-1 and IV-2, respectively, by Eikenboom et al.20