Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

  title={Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding},
  author={M Canault and Dorsaf Ghalloussi and Charlotte Grosdidier and Marie Guinier and Claire Perret and Nadjim Chelghoum and Marine Germain and Hana Raslov{\'a} and Franck Peiretti and Pierre Emmanuel Morange and No{\'e}mie Saut and Xavier Pillois and Paquita Nurden and François Cambien and Anne Pierres and Timo K van den Berg and Taco Willem Kuijpers and M C Alessi and D A Tregouet},
  booktitle={The Journal of experimental medicine},
The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the RAS guanyl-releasing protein-2 (RASGRP2) gene coding for calcium- and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI). Platelets from individuals carrying the mutation present a reduced ability to activate Rap1 and to perform proper αIIbβ3 integrin inside-out signaling. Expression of CalDAG-GEFI mutant… CONTINUE READING
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