RASGRP2 gene variations associated with platelet dysfunction and bleeding.

Abstract:

:This manuscript reviews pathogenic variants in RASGRP2, which are the cause of a relatively new autosomal recessive and nonsyndromic inherited platelet function disorder, referred to as platelet-type bleeding disorder-18 (BDPLT18)(OMIM:615888). To date, 18 unrelated BDPLT18 pedigrees have been reported, harboring 19 different homozygous or compound heterozygous RASGRP2 variants. Patients with this disease present with lifelong moderate to severe bleeding, with epistaxis as the most common and relevant bleeding symptom. Biologically, they exhibit normal platelet count and morphology, reduced aggregation responses to ADP, epinephrine and low-dose collagen, and impaired αIIbβ3 integrin activation (fibrinogen or PAC-1 binding) in response to most agonists except PMA. Diagnosis is confirmed by genetic analysis of RASGRP2.

journal_name

Platelets

journal_title

Platelets

authors

Palma-Barqueros V,Ruiz-Pividal J,Bohdan N,Vicente V,Bastida JM,Lozano M,Rivera J

doi

10.1080/09537104.2019.1585528

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

535-539

issue

4

eissn

0953-7104

issn

1369-1635

journal_volume

30

pub_type

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