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

FIGURE 4.

FIGURE 4

Sequences variations of VWF gene in 161 patients with type 1 von Willebrand disease (VWD). In our 161 patients with type 1 VWD, 105 distinct sequence variations spread all over VWF gene were identified. Novel mutations are indicated in blue. Missense mutations (51%) are presented on the top and truncating sequence variations (49%) are indicated on the bottom. In type 1 “IC” (clearance), the most frequent mutations were either the Vicenza mutation p.Arg1205His or others like p.Arg1205Cys, p.Arg1205Leu, p.Cys1165Phe, and dup.exon35–37. Six patients had mutations localized within the propeptide-cleavage site (p.Arg763Gly or p.Arg763Met). Interestingly, almost half of the truncating mutations found at the heterozygous state in our patients with type 1 VWD were also found in association with another mutation in our patients with type 3 VWD. IC = index cases, VWD = von Willebrand disease.