Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation
Research output: Contribution to journal › Case report › Contributed › peer-review
Contributors
Abstract
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 RASGRP2 mutation segregating with the bleeding disorder in the family.
Details
Original language | English |
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Pages (from-to) | e413-e416 |
Journal | TH open : companion journal to thrombosis and haemostasis |
Volume | 4 |
Issue number | 4 |
Publication status | Published - Oct 2020 |
Peer-reviewed | Yes |
External IDs
PubMedCentral | PMC7762629 |
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ORCID | /0000-0001-6313-4434/work/148608227 |