Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation
Publikation: Beitrag in Fachzeitschrift › Fallbericht (Case report) › Beigetragen › Begutachtung
Beitragende
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
Originalsprache | Englisch |
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Seiten (von - bis) | e413-e416 |
Fachzeitschrift | TH open : companion journal to thrombosis and haemostasis |
Jahrgang | 4 |
Ausgabenummer | 4 |
Publikationsstatus | Veröffentlicht - Okt. 2020 |
Peer-Review-Status | Ja |
Externe IDs
PubMedCentral | PMC7762629 |
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ORCID | /0000-0001-6313-4434/work/148608227 |