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

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.

SUBMITTER: Korholz J 

PROVIDER: S-EPMC7762629 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense <i>RASGRP2</i> Mutation.

Körholz Julia J   Lucas Nadja N   Boiti Franziska F   Althaus Karina K   Tiebel Oliver O   Fang Mingyan M   Berner Reinhard R   Lee-Kirsch Min Ae MA   Knöfler Ralf R  

TH open : companion journal to thrombosis and haemostasis 20201001 4

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  ...[more]

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