Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

Publikation: Beitrag in FachzeitschriftFallbericht (Case report)BeigetragenBegutachtung

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

OriginalspracheEnglisch
Seiten (von - bis)e413-e416
FachzeitschriftTH open : companion journal to thrombosis and haemostasis
Jahrgang4
Ausgabenummer4
PublikationsstatusVeröffentlicht - Okt. 2020
Peer-Review-StatusJa

Externe IDs

PubMedCentral PMC7762629
ORCID /0000-0001-6313-4434/work/148608227

Schlagworte