Platelet glycoprotein VI genetic quantitative and qualitative defects

Abstract

Platelet membrane glycoprotein VI (GPVI) is increasingly recognized as an important receptor for thrombus formation and growth. Numerous arguments have been published indicating that GPVI plays a major role in thrombosis without being essential for physiological hemostasis. In humans, GPVI deficiencies are rarely reported. These are most often deficiencies occurring in the context of autoimmunity and, more rarely, genetic deficits. The purpose of this review is to compile data on the quantitative and qualitative genetic abnormalities of GPVI.

Keywords:

• Glycoprotein VI
• genetic deficiency
• platelet disorder

Acknowledgements

This work was funded by the French National Institute of Health and Medical Research (INSERM)

Declaration of interest

Martine Jandrot-Perrus is founder and scientific consultant for Acticor-Biotech Diego Mezzano and Cedric Hermans have no conflicts of interest to disclose.

Contribution of each author

M.J-P wrote, C.H and D.M contributed to the manuscript.