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A novel mutation (Leu817Pro) causing type 2A von Willebrand disease
D Gemmati1, M L Serino, S Moratelli
1Centro per lo Studio dell'Emostasi e Trombosi, Università degli Studi di Ferrara, Italy.
British Journal of Haematology
|January 1, 1996
Summary
A novel von Willebrand factor gene mutation, Leu817Pro, was identified in a patient with von Willebrand disease type 2A. This mutation impacts vWF stability or secretion, leading to bleeding episodes.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Von Willebrand disease (vWD) is a bleeding disorder caused by defects in the von Willebrand factor (vWF).
- Type 2A vWD is characterized by the absence of large vWF multimers, leading to impaired platelet adhesion and reduced Factor VIII levels.
Observation:
- A patient with type 2A vWD presented with mild bleeding episodes and reduced hemostatic parameters.
- Genetic analysis revealed a heterozygous T to C transition at nucleotide 8680 in exon 28 of the vWF gene, resulting in the Leu817Pro missense mutation.
Findings:
- The Leu817Pro mutation was also found in two affected relatives, suggesting a familial inheritance pattern.
- Platelets showed a complete spectrum of vWF multimers, and vWF antigen levels increased after DDAVP treatment.
- The mutation is compatible with normal vWF multimerization but may impair vWF stability or physiological secretion.
Implications:
- The Leu817Pro mutation represents a novel genetic cause of von Willebrand disease type 2A.
- Understanding this mutation's effect on vWF function can aid in diagnosing and managing vWD.
- Further research into vWF stability and secretion mechanisms is warranted.