A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

@article{Ghevaert2008ANS,
  title={A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.},
  author={Cedric J G Ghevaert and Alexandre Salsmann and Nicholas A. Watkins and Elisabeth Schaffner-Reckinger and Angela Rankin and Stephen Garner and Jonathan P. Stephens and Graham A. Smith and Najet Debili and William Vainchenker and Philip G. de Groot and James A. Huntington and Mike A. Laffan and Nelly Kieffer and Willem H Ouwehand},
  journal={Blood},
  year={2008},
  volume={111 7},
  pages={3407-14}
}
We report a 3-generation pedigree with 5 individuals affected with a dominantly inherited macrothrombocytopenia. All 5 carry 2 nonsynonymous mutations resulting in a D723H mutation in the beta3 integrin and a P53L mutation in glycoprotein (GP) Ibalpha. We show that GPIbalpha-L53 is phenotypically silent, being also present in 3 unaffected pedigree members and in 7 of 1639 healthy controls. The beta3-H723 causes constitutive, albeit partial, activation of the alphaIIbbeta3 complex by disruption… CONTINUE READING
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