Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).
- Emilse Bermejo,
- Maria F Alberto,
- David S Paul,
- Aaron A Cook,
- Paquita Nurden,
- Analia Sanchez Luceros,
- Alan T Nurden,
- Wolfgang Bergmeier
Platelets 2017 Jul 20:1-3. Epub 2017 Jul 20.
b McAllister Heart Institute , University of North Carolina at Chapel Hill , Chapel Hill , North Carolina , USA.
Congenital platelet function disorders are often the result of defects in critical signal transduction pathways required for platelet adhesion and clot formation. Mutations affecting RASGRP2, the gene encoding the Rap GTPase activator, CalDAG-GEFI, give rise to a novel, and rare, group of platelet signal transduction abnormalities. We here report platelet function studies for two brothers (P1 and P2) expressing a novel variant of RASGRP2, CalDAG-GEFI(p. Read More