Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG-GEFI encoding gene.

ABSTRACT:

Background

Genetic variants in the RASGRP2 gene encoding calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI) represent a new inherited bleeding disorder linked to major defects of platelet aggregation and activation of αIIbβ3 integrin. They are of major interest as CalDAG-GEFI is receiving attention as a potential target for antiplatelet therapy for prevention and treatment of cardiovascular disorders including arterial thrombosis and atherosclerosis.

Objectives

To better understand the phenotypical and clinical profiles of patients with CalDAG-GEFI deficiency.

Patients

We report a five-generation family with a novel truncating CalDAG-GEFI mutation detailing clinical management and phenotypic variability.

Results

Patie

SUBMITTER: Desai A 

PROVIDER: S-EPMC5974916 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature