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Table 1 De novo mutations of the VWF gene in the 4 patients with type 2 VWD

From: De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD

Age/Sex VWD classification Exon No. (domain) Nucleotide substitution Amino acid substitution VIII:C (IU/dL) VWF:Ag (IU/dL) VWF: Act (IU/dL) Family history and affected sibling in the family
8/F Type 2A 28 (A2) c.4517 C → T p.Ser1506 Leu 53 38.5 10 None
12/F Type 2B 28 (A1) c.3916 C → T p.Arg1306Trp 27 50 7.5 None
10/F Type 2B 28 (A1) c.3922 C → T p.Arg1308Cys 31 35.9 4.5 None
7/Fa Type 2M 28 (A1) c.3827T → G p.Leu1276Argb 28 26 6 None
  1. aF: female
  2. bNovel mutation