192
Views
17
CrossRef citations to date
0
Altmetric
Short Communication

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

, , , , , , ORCID Icon & ORCID Icon show all
Pages 84-86 | Received 07 Apr 2017, Accepted 16 May 2017, Published online: 20 Jul 2017

References

  • Gresele P, Harrison P, Bury L, Falcinelli E, Gachet C, Hayward CP, et al. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. J Thromb Haemost 2014;12:1562–1569. doi:10.1111/jth.12650
  • Boudreaux MK, Schmutz SM, French PS. Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf. Vet Pathol 2007;44:932–935. doi:10.1354/vp.44-6-932
  • Boudreaux MK, Catalfamo JL, Klok M. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 2007;150:81–92. doi:10.1016/j.trsl.2007.03.006
  • Stolla M, Stefanini L, Roden RC, Chavez M, Hirsch J, Greene T, et al. The kinetics of alphaIIbbeta3 activation determines the size and stability of thrombi in mice: implications for antiplatelet therapy. Blood. 2011;117:1005–1013. doi:10.1182/blood-2010-07-297713
  • Stefanini L, Bergmeier W. RAP1-GTPase signaling and platelet function. J Mol Med 2015. doi:10.1007/s00109-015-1346-3
  • Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, et al. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med 2014;211:1349–1362. doi:10.1084/jem.20130477
  • Lozano ML, Cook A, Bastida JM, Paul DS, Iruin G, Cid AR, et al. Novel mutations in RASGRP2 encoding for CalDAG-GEFI abrogate Rap1 activation causing platelet dysfunction. Blood 2016. doi:10.1182/blood-2015-11-683102
  • Kato H, Nakazawa Y, Kurokawa Y, Kashiwagi H, Morikawa Y, Morita D, et al. Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation. Blood 2016;128:2729–2733. doi:10.1182/blood-2016-03-704825
  • Crittenden JR, Bergmeier W, Zhang Y, Piffath CL, Liang Y, Wagner DD, et al. CalDAG-GEFI integrates signaling for platelet aggregation and thrombus formation. Nat Med. 2004;10:982–986. doi:10.1038/nm1098
  • Stefanini L, Roden RC, Bergmeier W. CalDAG-GEFI is at the nexus of calcium-dependent platelet activation. Blood 2009;114:2506–2514. doi:10.1182/blood-2009-04-218768
  • Simeoni I, Stephens JC, Hu F, Deevi SVV, Megy K, Bariana TK, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 2016;127:2791–2803. doi:10.1182/blood-2015-12-688267
  • Kato Y, Hori S, Fujita N, Tsuruo T. A novel anti-platelet monoclonal antibody induces mouse platelet aggregation through an Fc receptor-independent mechanism. Biochem Biophys Res Commun 1998;242:250–255.
  • Rehmann H, Arias-Palomo E, Hadders MA, Schwede F, Llorca O, Bos JL. Structure of Epac2 in complex with a cyclic AMP analogue and RAP1B. Nature 2008;455:124–127. doi:10.1038/nature07187

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.