Genomics of platelet disorders

被引：7
|
作者：
Westbury, S. K. [1 ]
Mumford, A. D. [1 ,2 ,3 ]
机构：
[1] Univ Bristol, Sch Clin Sci, Level 7 Bristol Royal Infirm, Bristol BS2 8HW, Avon, England
[2] Bristol Haemophilia Comprehens Care Ctr, Bristol, Avon, England
[3] West England Genom Med Ctr, Bristol, Avon, England
来源：
HAEMOPHILIA | 2016年 / 22卷
基金：
英国医学研究理事会;
关键词：
genetic diagnosis; next-generation sequencing; platelet function disorders; platelet number disorders; THROMBOCYTOPENIA; MUTATIONS; DEFECTS; ELTROMBOPAG; DISEASE;
D O I：
10.1111/hae.12964
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.
引用
收藏
页码：20 / 24
页数：5
相关论文
共 50 条
  • [21] Novel approaches for diagnosing inherited platelet disorders
    Bastida Bermejo, Jose Maria
    Maria Hernandez-Rivas, Jesus
    Ramon Gonzalez-Porras, Jose
    MEDICINA CLINICA, 2017, 148 (02): : 71 - 77
  • [22] Inherited disorders of platelet function: selected updates
    Nurden, A. T.
    Nurden, P.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : S2 - S9
  • [23] Diagnosing Inherited Platelet Disorders: Modalities and Consequences
    Zaninetti, Carlo
    Wolff, Martina
    Greinacher, Andreas
    HAMOSTASEOLOGIE, 2021, 41 (06): : 475 - 488
  • [24] Diagnosing Czech Patients with Inherited Platelet Disorders
    Louzil, Jan
    Stikarova, Jana
    Provaznikova, Dana
    Hrachovinova, Ingrid
    Fenclova, Tereza
    Musil, Jan
    Radek, Martin
    Kaufmanova, Jirina
    Geierova, Vera
    Ceznerova, Eliska
    Salaj, Peter
    Kotlin, Roman
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (22)
  • [25] Inherited platelet disorders : Management of the bleeding risk
    Dupuis, Arnaud
    Gachet, Christian
    TRANSFUSION CLINIQUE ET BIOLOGIQUE, 2018, 25 (03) : 228 - 235
  • [26] NEW THROMBOPOIETIN RECEPTOR AGONISTS FOR PLATELET DISORDERS
    Homeida, S.
    Ebdon, C.
    Batty, P.
    Jackson, B.
    Kolade, S.
    Bateman, C.
    Peng, Y. Y.
    Stasi, R.
    DRUGS OF TODAY, 2012, 48 (04) : 293 - 301
  • [27] The Diagnosis of Platelet Function Disorders - A Challenge in the Laboratory
    Althaus, Karina
    Wagner, Miriam
    Bakchoul, Tamam
    TRANSFUSIONSMEDIZIN, 2019, 9 (02) : 96 - 108
  • [28] Update on the causes of platelet disorders and functional consequences
    Freson, K.
    Wijgaerts, A.
    van Geet, C.
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2014, 36 (03) : 313 - 325
  • [29] Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier
    Greinacher, Andreas
    Eekels, Julia J. M.
    BLOOD, 2019, 133 (23) : 2478 - 2483
  • [30] Platelet function disorders
    Gurjeewan Garewal
    J. Ahluwalia
    The Indian Journal of Pediatrics, 2003, 70 (12) : 983 - 987
12345