RASGRP2 gene variations associated with platelet dysfunction and bleeding.
Platelets
; 30(4): 535-539, 2019.
Article
em En
| MEDLINE
| ID: mdl-30849270
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)(OMIM615888). 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 αIIbß3 integrin activation (fibrinogen or PAC-1 binding) in response to most agonists except PMA. Diagnosis is confirmed by genetic analysis of RASGRP2.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Transtornos Plaquetários
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Plaquetas
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Fatores de Troca do Nucleotídeo Guanina
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Hemorragia
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Platelets
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Espanha