A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers

M Vos-Loohuis, B A van Oost, C Dangel, I Langbein-Detsch, P A Leegwater

    Research output: Contribution to journalArticleAcademicpeer-review

    Abstract

    Von Willebrand disease (VWD), caused by deficiency of the von Willebrand factor (VWF), is the most common bleeding disorder in humans and dogs. The complete cDNA encoding VWF of a German Wirehaired Pointer with type 2 VWD was sequenced, and we found four variants that alter the amino acid sequence. These variants were: c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A and c.4937G alleles co-segregated with the VWF antigen level in a four-generation pedigree with the disease. Healthy dogs of the breed were found that were homozygous for the c.1777A or the c.5544A allele, indicating that these variants do not cause VWD. Dogs that were homozygous for the c.4937G allele and had no signs of a bleeding disorder were observed in the Chinese Crested dog breed. Thus, only the c.1657G variant was found in the homozygous state exclusively in VWD affecteds, and this variant is the strongest candidate to be the cause of VWD type 2 in the German Wirehaired Pointer breed. A screen of German Shorthaired Pointers indicated that the variant also segregates with VWD in this breed.

    Original languageEnglish
    Pages (from-to)493-496
    Number of pages4
    JournalAnimal Genetics
    Volume48
    Issue number4
    DOIs
    Publication statusPublished - Aug 2017

    Keywords

    • Alleles
    • Animals
    • Breeding
    • Dog Diseases
    • Dogs
    • Pedigree
    • von Willebrand Disease, Type 2
    • von Willebrand Factor

    Fingerprint

    Dive into the research topics of 'A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers'. Together they form a unique fingerprint.

    Cite this