Phenotype: von Willebrand disease, type 1


OMIM: 193400
Inheritance: Autosomal dominant
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

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VWF || c.7085G>T

Gene/Locus:    VWF
Dna Change:    c.7085G>T
Protein Change:    p.Cys2362Phe
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 42
Transcript:    NM_000552.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA6 patients/ 1 familyNACastaman G et al., 2002Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F, . A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.. Thromb. Res.. 2002; 105(2):135-8

VWF || c.3389G>T (G3639T)

Gene/Locus:    VWF
Dna Change:    c.3389G>T (G3639T)
Protein Change:    p.Cys1130Phe (C1130F)
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 26
Transcript:    NM_000552.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA3 patients/24 patientsNACastaman G et al., 2000Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F, . Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.. Br. J. Haematol.. 2000; 108(4):876-9

VWF || c.2561G>A

Gene/Locus:    VWF
Dna Change:    c.2561G>A
Protein Change:    p.Arg854Gln
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 20
Transcript:    NM_000552.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA13 unrelated families10000 years agoCasonato A et al., 2013Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, . A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.. Haematologica. 2013; 98(1):147-52

References

Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.Haematologica. 2013; 98(1):147-52

Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F, Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.Br. J. Haematol.. 2000; 108(4):876-9

Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F, A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.Thromb. Res.. 2002; 105(2):135-8