Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation
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 calciu...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Georg Thieme Verlag KG
2020-10-01
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| Series: | TH Open |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1718910 |
| _version_ | 1818721475675291648 |
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| author | Julia Körholz Nadja Lucas Franziska Boiti Karina Althaus Oliver Tiebel Mingyan Fang Reinhard Berner Min Ae Lee-Kirsch Ralf Knöfler |
| author_facet | Julia Körholz Nadja Lucas Franziska Boiti Karina Althaus Oliver Tiebel Mingyan Fang Reinhard Berner Min Ae Lee-Kirsch Ralf Knöfler |
| author_sort | Julia Körholz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T20:39:20Z |
| format | Article |
| id | doaj.art-924c99b7622343c4b6376e00269effbb |
| institution | Directory Open Access Journal |
| issn | 2512-9465 |
| language | English |
| last_indexed | 2024-12-17T20:39:20Z |
| publishDate | 2020-10-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | TH Open |
| spelling | doaj.art-924c99b7622343c4b6376e00269effbb2022-12-21T21:33:22ZengGeorg Thieme Verlag KGTH Open2512-94652020-10-010404e413e41610.1055/s-0040-1718910Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 MutationJulia Körholz0Nadja Lucas1Franziska Boiti2Karina Althaus3Oliver Tiebel4Mingyan Fang5Reinhard Berner6Min Ae Lee-Kirsch7Ralf Knöfler8Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyInstitute for Transfusion Medicine, University Hospital Tübingen, University of Tübingen, Tübingen, GermanyInstitute for Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyBGI-Shenzhen and China National GeneBank, Shenzhen, ChinaDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyNext-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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1718910bleeding diathesisplatelet dysfunction rasgrp2 |
| spellingShingle | Julia Körholz Nadja Lucas Franziska Boiti Karina Althaus Oliver Tiebel Mingyan Fang Reinhard Berner Min Ae Lee-Kirsch Ralf Knöfler Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation TH Open bleeding diathesis platelet dysfunction rasgrp2 |
| title | Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation |
| title_full | Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation |
| title_fullStr | Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation |
| title_full_unstemmed | Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation |
| title_short | Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation |
| title_sort | severe bleeding diathesis in siblings with platelet dysfunction due to a novel nonsense rasgrp2 mutation |
| topic | bleeding diathesis platelet dysfunction rasgrp2 |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1718910 |
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