Skip to main content

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