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Updated: Nov 10, 2025

Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
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Published on: August 14, 2017

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A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor

Caitlin Dunstan-Harrison1, Ian M Morison2, Elizabeth C Ledgerwood1

  • 1Departments of Biochemistry, University of Otago, Dunedin, New Zealand.

Platelets
|April 5, 2021
PubMed

GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia. The variant leads to a protein that is 101 amino acids longer than wild type with loss of the transmembrane domain. As there is no defect in platelet aggregation, the family are classified as heterozygous carriers of a Bernard-Soulier syndrome-related mutation. The levels of the vWF receptor on platelets are reduced to 50% of the controls, with the presence of large platelets but normal platelet aggregation demonstrating that decreased vWF receptor expression impacts proplatelet formation but not platelet function.

Keywords:
GP1BBmacrothrombocytopeniavWF receptor

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