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Hereditary platelet function disorder from gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.

作者信息

Yun Jae Won, Lee Ki-O, Jung Chul Won, Oh Soo-Young, Kim Sun-Hee, Choi Chul Won, Kim Hee-Jin

机构信息

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul.

Samsung Biomedical Research Institute, Samsung Medical Center.

出版信息

Haematologica. 2019 Jun;104(6):e274-e276. doi: 10.3324/haematol.2019.218487. Epub 2019 Mar 7.

DOI:10.3324/haematol.2019.218487
PMID:30846498
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6545837/
Abstract
摘要

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Hereditary platelet function disorder from gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.通过全外显子组测序在一名患有严重出血的韩国女性中鉴定出由编码CalDAG-GEFI的基因突变引起的遗传性血小板功能障碍。
Haematologica. 2019 Jun;104(6):e274-e276. doi: 10.3324/haematol.2019.218487. Epub 2019 Mar 7.
2
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).伴有血小板功能障碍的患者存在明显出血倾向，其原因是 RasGRP2 基因（编码 CalDAG-GEFI）发生了新的突变（p.Gly305Asp）。
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3
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.编码钙依赖性鸟苷酸交换因子I（CalDAG-GEFI）的RASGRP2基因中的新型突变消除了Rap1激活，导致血小板功能障碍。
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Genes (Basel). 2021 May 6;12(5):693. doi: 10.3390/genes12050693.
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Inherited Platelet Function Disorder From Novel Mutations in RAS Guanyl-Releasing Protein-2 Confirmed by Sanger Sequencing.通过桑格测序证实的RAS鸟苷释放蛋白-2新突变导致的遗传性血小板功能障碍
Cureus. 2020 Nov 25;12(11):e11708. doi: 10.7759/cureus.11708.
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Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.遗传性和获得性血小板疾病中健康输注血小板的止血活性受损：机制与意义。
Sci Transl Med. 2019 Dec 11;11(522). doi: 10.1126/scitranslmed.aay0203.

本文引用的文献

1
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.将高通量测序引入遗传性血小板疾病的主流遗传诊断实践中。
Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5.
2
Peripartum bleeding management in a patient with CalDAG-GEFI deficiency.患有钙依赖性鸟苷酸交换因子I（CalDAG-GEFI）缺乏症患者的围产期出血管理
Haemophilia. 2017 Nov;23(6):e533-e535. doi: 10.1111/hae.13352. Epub 2017 Oct 4.
3
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.外显子组测序在儿童遗传性血小板疾病分子诊断中的应用及局限性
Am J Hematol. 2018 Jan;93(1):8-16. doi: 10.1002/ajh.24917. Epub 2017 Oct 20.
4
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.鉴定 RASGRP2 中的两个新突变，这些突变影响血小板 CalDAG-GEFI 的表达和功能，导致出血倾向。
Platelets. 2018 Mar;29(2):192-195. doi: 10.1080/09537104.2017.1336214. Epub 2017 Aug 1.
5
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).伴有血小板功能障碍的患者存在明显出血倾向，其原因是 RasGRP2 基因（编码 CalDAG-GEFI）发生了新的突变（p.Gly305Asp）。
Platelets. 2018 Jan;29(1):84-86. doi: 10.1080/09537104.2017.1332759. Epub 2017 Jul 20.
6
Expanded repertoire of variants responsible for platelet dysfunction and severe bleeding.导致血小板功能障碍和严重出血的变异体种类增加。
Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21.
7
Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation.人 CalDAG-GEFI 缺乏增加出血并延迟 αIIbβ3 活化。
Blood. 2016 Dec 8;128(23):2729-2733. doi: 10.1182/blood-2016-03-704825. Epub 2016 Sep 23.
8
Inherited CalDAG-GEFI deficiency.遗传性钙依赖性鸟苷酸交换因子I缺乏症
Blood. 2016 Sep 1;128(9):1165-7. doi: 10.1182/blood-2016-07-719906.
9
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.编码钙依赖性鸟苷酸交换因子I（CalDAG-GEFI）的RASGRP2基因中的新型突变消除了Rap1激活，导致血小板功能障碍。
Blood. 2016 Sep 1;128(9):1282-9. doi: 10.1182/blood-2015-11-683102. Epub 2016 May 27.
10
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.一种用于诊断遗传性出血、血栓形成和血小板疾病的高通量测序检测。
Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.