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
Plateletsjournal_title
Plateletsauthors
Palma-Barqueros V,Ruiz-Pividal J,Bohdan N,Vicente V,Bastida JM,Lozano M,Rivera Jdoi
10.1080/09537104.2019.1585528subject
Has Abstractpub_date
2019-01-01 00:00:00pages
535-539issue
4eissn
0953-7104issn
1369-1635journal_volume
30pub_type
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