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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)

Anne Goodeve, Jeroen Eikenboom, Giancarlo Castaman, Francesco Rodeghiero, Augusto B. Federici, Javier Batlle, Dominique Meyer, Claudine Mazurier, Jenny Goudemand, Reinhard Schneppenheim, Ulrich Budde, Jorgen Ingerslev, David Habart, Zdena Vorlova, Lars Holmberg, Stefan Lethagen, John Pasi, Frank Hill, Mohammad Hashemi Soteh, Luciano Baronciani, Christer Hallden, Andrea Guilliatt, Will Lester and Ian Peake
This article has an Erratum 111(6):3299

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  • RE: Goodeve A et al
    • Xiong Wang, Department of Laboratory Medicine, Tongji Hospital Huazhong University of Science and Technology, Wuhan 430030, China
    • Other Contributors:
      • Yanjun Lu, Department of Laboratory Medicine, Tongji Hospital

    1. Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

    Corresponding author: Xiong Wang, Email: wangxiong@tjh.tjmu.edu.cn, Tel: +86 02783663414.

     

    Von Willebrand disease (VWD), the most common inherited bleeding disorder, is caused by quantitative or qualitative deficiency of von Willebrand factor (VWF). Molecular diagnosis of VWD is particularly complex. The VWF gene is comprised of 52 exons and highly polymorphic, and there is a highly homologous (>96%) partial pseudogene in chromosome 22 (exons 23 to 34).

    In a multicentre study on phenotype and genotype of a cohort of VWD families by Goodeve A et al1, a total of five pairs of primers for VWF exon26 were applied and four missense mutation in VWF exon26 were identified. However, we found that none of the five pairs of primers could correctly discriminate VWF exon26 from pseudogene in chromosome 22.

    A total of 957bp including 400bp before and 400bp after exon26, were compared with pseudogene (Figure 1A). 207bp before and 315bp after exon26 (chr12:6022425-6023105, GRCh38) were completely identical with pseudogene (chr22:16700839-16701519, GRCh38). All the five pairs of primers for VWF exon26 were located in the identical sequence with pseudogene, hard to discriminate VWF exon2...

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    Conflict of Interest:
    None declared.