Most common variants identified in VWF for each VWD type 2 in the index cases
| VWD type . | Common variants in index cases (n; %) . |
|---|---|
| 2A(IIA) | p.Ile1628Thr (7; 21) |
| Index case (n = 33) | p.Ser1506Leu (4; 12) |
| All 2A(IIA) patients (n = 64) | p.Arg1597Gln (4; 12) |
| 2A(IIE) | c.3390C>T, p.Cys1130Cys (4; 33)* |
| Index case (n = 12) | |
| All 2A(IIE) patients (n = 32) | |
| Classical 2B | p.Arg1308Cys (5; 16) |
| Index case (n = 31) | p.Arg1341Trp (5; 16) |
| All classical 2B patients (n = 61) | p.Val1316Met (4; 13) |
| 2B NY | p.Pro1266Leu† |
| Index case (n = 7) | |
| All 2B NY patients (n = 24) | |
| Classical 2M | p.Ala1377Val-Arg1379Cys (4; 17)‡ |
| Index case (n = 24) | p.Arg1399Cys (2; 8) |
| All classical 2M patients (n = 46) | |
| 2M/2A | p.Arg1374His (11; 69) |
| Index case (n = 16) | p.Arg1374Cys (4; 25) |
| All 2M/2A patients (n = 37) | |
| 2MCB | p.Ala1716Pro (4; 40) |
| Index case (n = 10) | p.Tyr1780Asn (2; 20) |
| All 2MCB patients (n = 29) | |
| 2N | p.Arg854Gln§ |
| Index case (n = 12) | |
| All 2N patients (n = 26) |
| VWD type . | Common variants in index cases (n; %) . |
|---|---|
| 2A(IIA) | p.Ile1628Thr (7; 21) |
| Index case (n = 33) | p.Ser1506Leu (4; 12) |
| All 2A(IIA) patients (n = 64) | p.Arg1597Gln (4; 12) |
| 2A(IIE) | c.3390C>T, p.Cys1130Cys (4; 33)* |
| Index case (n = 12) | |
| All 2A(IIE) patients (n = 32) | |
| Classical 2B | p.Arg1308Cys (5; 16) |
| Index case (n = 31) | p.Arg1341Trp (5; 16) |
| All classical 2B patients (n = 61) | p.Val1316Met (4; 13) |
| 2B NY | p.Pro1266Leu† |
| Index case (n = 7) | |
| All 2B NY patients (n = 24) | |
| Classical 2M | p.Ala1377Val-Arg1379Cys (4; 17)‡ |
| Index case (n = 24) | p.Arg1399Cys (2; 8) |
| All classical 2M patients (n = 46) | |
| 2M/2A | p.Arg1374His (11; 69) |
| Index case (n = 16) | p.Arg1374Cys (4; 25) |
| All 2M/2A patients (n = 37) | |
| 2MCB | p.Ala1716Pro (4; 40) |
| Index case (n = 10) | p.Tyr1780Asn (2; 20) |
| All 2MCB patients (n = 29) | |
| 2N | p.Arg854Gln§ |
| Index case (n = 12) | |
| All 2N patients (n = 26) |
The apparent synonymous variant is responsible for the skipping of exon 26, which results in a large in-frame deletion (p.P1127_G1180delinsR).34
Six different gene conversions from 2 up to 5 nuclide changes, always with p.Pro1266Lue, were identified.
These 2 variants have been found in the same allele, and their combination is responsible for the classical 2M phenotype.35
p.Arg854Gln was found in type 2N patients, either in homozygosity or compound heterozygosity, and carriers.