Article
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
The Journal of experimental medicine - 30 Jun 2014
Canault Matthias, Ghalloussi Dorsaf, Grosdidier Charlotte, Guinier Marie, Perret Claire, Chelghoum Nadjim, Germain Marine, Raslova Hana, Peiretti Franck, Morange Pierre E, Saut Noemie, Pillois Xavier, Nurden Alan T, Cambien François, Pierres Anne, van den Berg Timo K, Kuijpers Taco W, Alessi Marie-Christine, Tregouet David-Alexandre
Abstract excerpt
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...
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