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RASGRP2 gene variations associated with platelet dysfunction and bleeding.

Verónica Palma-Barqueros1, Juan Ruiz-Pividal1, Natalia Bohdan1

  • 1a Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación , Universidad de Murcia , Murcia , Spain.

Platelets
|March 9, 2019
PubMed
Summary
This summary is machine-generated.

Pathogenic variants in RASGRP2 cause platelet-type bleeding disorder-18 (BDPLT18), an inherited platelet function disorder. Diagnosis involves genetic analysis of RASGRP2, identifying variants linked to bleeding symptoms.

Keywords:
BleedingCalDAG-GEFIRASGRP2inherited platelet dysfunction

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Platelet-type bleeding disorder-18 (BDPLT18) is an inherited platelet function disorder.
  • It is caused by pathogenic variants in the RASGRP2 gene.
  • This disorder is autosomal recessive and nonsyndromic.

Purpose of the Study:

  • To review pathogenic variants in RASGRP2 associated with BDPLT18.
  • To summarize the clinical and biological characteristics of BDPLT18.
  • To highlight diagnostic approaches for BDPLT18.

Main Methods:

  • Literature review of reported BDPLT18 pedigrees and RASGRP2 variants.
  • Analysis of clinical presentations, including bleeding symptoms.
  • Review of platelet function tests, including aggregation and integrin activation.

Main Results:

  • 18 unrelated BDPLT18 pedigrees reported with 19 distinct RASGRP2 variants.
  • Patients exhibit lifelong moderate to severe bleeding, commonly epistaxis.
  • Platelet aggregation and αIIbβ3 integrin activation are impaired in response to various agonists.

Conclusions:

  • RASGRP2 variants are confirmed as the cause of BDPLT18.
  • Genetic analysis of RASGRP2 is crucial for diagnosing BDPLT18.
  • Understanding these variants aids in diagnosing and managing inherited platelet function disorders.