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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

作者信息

Hampshire Daniel J, Burghel George J, Goudemand Jenny, Bouvet Laura C S, Eikenboom Jeroen C J, Schneppenheim Reinhard, Budde Ulrich, Peake Ian R, Goodeve Anne C

出版信息

Haematologica. 2010 Dec;95(12):2163-5. doi: 10.3324/haematol.2010.027177. Epub 2010 Sep 17.

DOI:10.3324/haematol.2010.027177
PMID:20851871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2995578/
Abstract
摘要

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1
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.血管性血友病因子（VWF）基因内的多态性变异导致在历史上被诊断为来自MCMDM - 1VWD队列的1型血管性血友病患者中未能检测到突变。
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2
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3
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5
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.1型血管性血友病突变p.Arg1379Cys与变异体p.Ala1377Val协同决定了4例意大利患者的2M表型。
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Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.与不同血管性血友病 (VWD) 类型相关的血管性血友病因子基因中的突变分布在 VWD 患者队列中。
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Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.沙特健康个体血管性血友病因子基因（外显子 18 和 20）的表型和基因型特征。
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Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.血管性血友病因子突变单体的可变含量导致了一个血管性血友病家族中的表型变异。
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5
The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.血管性血友病的诊断与管理：英国血友病中心医生组织指南，经英国血液学标准委员会批准。
Br J Haematol. 2014 Nov;167(4):453-65. doi: 10.1111/bjh.13064. Epub 2014 Aug 12.
6
VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.血管性血友病因子前肽及其与血管性血友病因子、VIII 因子比值在 1 型血管性血友病诊断中的作用。
Blood. 2013 Mar 21;121(12):2336-9. doi: 10.1182/blood-2012-09-455089. Epub 2013 Jan 24.
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Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.定量 von Willebrand 病中血管性血友病因子的细胞内储存和调节分泌。
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本文引用的文献

1
A novel binding site for ADAMTS13 constitutively exposed on the surface of globular VWF.一个新的ADAMTS13结合位点，其在球形VWF表面组成性暴露。
Blood. 2009 Sep 24;114(13):2819-28. doi: 10.1182/blood-2009-05-224915. Epub 2009 Jul 8.
2
Evaluation of in silico splice tools for decision-making in molecular diagnosis.用于分子诊断决策的电子剪接工具评估
Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765.
3
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).欧洲研究中血管性血友病患者的血管性血友病因子多聚体详细分析，1型血管性血友病（MCMDM-1VWD）诊断和管理的分子及临床标志物
J Thromb Haemost. 2008 May;6(5):762-71. doi: 10.1111/j.1538-7836.2008.02945.x. Epub 2008 Mar 1.
4
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.1型血管性血友病的突变谱：一项加拿大队列研究的结果。
Blood. 2007 Jan 1;109(1):145-54. doi: 10.1182/blood-2006-05-021105..
5
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.对英国诊断为1型血管性血友病的患者进行血管性血友病因子基因型调查。
Thromb Haemost. 2006 Nov;96(5):630-41.
6
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).在欧洲开展的“1型血管性血友病诊断与管理的分子和临床标志物研究（MCMDM-1VWD）”中，一组历史上被诊断为1型血管性血友病的家族的表型和基因型。
Blood. 2007 Jan 1;109(1):112-21. doi: 10.1182/blood-2006-05-020784. Epub 2006 Sep 19.
7
Molecular misdiagnosis in type 2B von Willebrand disease.
Am J Hematol. 2006 Oct;81(10):805-6. doi: 10.1002/ajh.20661.
8
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution.
Clin Appl Thromb Hemost. 2006 Apr;12(2):237-9. doi: 10.1177/107602960601200215.
9
Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD.欧洲研究中1型血管性血友病（VWD）确诊家族的连锁分析，1型VWD诊断与管理的分子和临床标志物
J Thromb Haemost. 2006 Apr;4(4):774-82. doi: 10.1111/j.1538-7836.2006.01823.x.
10
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.位于血管性血友病因子D3结构域的两个新突变Q1053H和C1060R，导致FVIII结合能力下降。
Br J Haematol. 2003 Feb;120(4):627-32. doi: 10.1046/j.1365-2141.2003.04163.x.