Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense
RASGRP2
bleeding diathesis
platelet dysfunction
Journal
TH open : companion journal to thrombosis and haemostasis
ISSN: 2512-9465
Titre abrégé: TH Open
Pays: Germany
ID NLM: 101715740
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
25
03
2020
accepted:
15
09
2020
entrez:
30
12
2020
pubmed:
31
12
2020
medline:
31
12
2020
Statut:
epublish
Résumé
Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), underlie a recently described platelet signal transduction abnormality. Here we present the case of a consanguineous family originating from Afghanistan with two siblings affected by recurrent severe mucocutaneous bleedings. Platelet function testing demonstrated a marked reduction of aggregation induced by collagen and adenosine diphosphate. Whole exome sequencing revealed a novel homozygous nonsense
Identifiants
pubmed: 33376940
doi: 10.1055/s-0040-1718910
pii: 200018
pmc: PMC7762629
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e413-e416Informations de copyright
The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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