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. 2016 Mar 18;95(11):e3038. doi: 10.1097/MD.0000000000003038

FIGURE 6.

FIGURE 6

Mutations of VWF gene in 442 patients with type 2 von Willebrand disease (VWD). In our 442 patients with type 2 VWD, 118 distinct mutations were identified. Novel mutations are indicated in blue. In type 2A VWD (56 distinct mutations), most mutations (59%) were located in the A2 domain consisting in subtype 2A(IIA) leading to an increased VWF proteolysis (mainly mutations p.Arg1597Trp, p.Gly1609Arg, and p. Ile1626Thr); 30.5% of mutations were located in the D3 domain consisting in subtype 2A(IIE) (mainly mutations p.Cys1101Arg, p.Tyr1146Cys, and p.Cys1157Phe). Mutations located in either the D2 domain consisting in subtype 2A(IIC), or the A1 domain consisting in subtype 2A(IIA) leading to a decreased VWF secretion (mainly mutations p.Cys1272Arg, p.Cys1272Tyr, and p.Cys1458Tyr) or the CK domain (subtype 2A[IID]) were few (5%, 3.5%, and 2%, respectively). In type 2B VWD, 13 distinct mutations were described, most of them (85%) being located in the A1 domain (most frequently p.Arg1306Trp, p.Arg1308Cys, p.Pro1337Leu, and p.Arg1341Gln); some other mutations responsible for the specific type 2B “New York” (15%) were located in the D3-A1 junction (p.Pro1266Leu or p.Pro1266Gln). In type 2M VWD (40 distinct mutations), most mutations (78%) were located in the A1 domain (mainly p.Arg1315Cys and p.Arg1374Cys), whereas the other mutations (22%) were located within the A3 domain (p.Leu1696Arg was the most frequent mutation). In type 2N VWD, 8 distinct 2N mutations located in the D′-D3 domains were found (the p.Arg854Gln being the most frequent mutation as present in 90% of patients). VWD = von Willebrand disease, VWF = von Willebrand factor.