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CC BY 4.0 · TH Open 2020; 04(04): e413-e416
DOI: 10.1055/s-0040-1718910
Case Report

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

Julia Körholz
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Nadja Lucas
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Franziska Boiti
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Karina Althaus
2   Institute for Transfusion Medicine, University Hospital Tübingen, University of Tübingen, Tübingen, Germany
,
Oliver Tiebel
3   Institute for Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Mingyan Fang
4   BGI-Shenzhen and China National GeneBank, Shenzhen, China
,
Reinhard Berner
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Min Ae Lee-Kirsch
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Ralf Knöfler
1   Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
› Institutsangaben
Funding This study was funded by the Deutsche Forschungsgemeinschaft (German Research Foundation; grant 369799452/404459235) to M.L.K., Shenzhen Municipal Government of China (grant JCYJ20170817145536203) to M.F., and TÜFF-Gleichstellungsförderung to K.A. (grant 2563–0-0). Open access funding was provided by the publication fund of the TU Dresden.
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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.

Keywords

bleeding diathesis - platelet dysfunction - RASGRP2

Supplementary Material



Publikationsverlauf

Eingereicht: 25. März 2020

Angenommen: 15. September 2020

Artikel online veröffentlicht:
25. Dezember 2020

© 2020. 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/).

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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