Peer-reviewed veterinary case report
New gene variant linked to bleeding disorder in German Wirehaired
By Vos-Loohuis, M et al.Ā·Published in Animal geneticsĀ·2017Ā·Department of Veterinary Medicine of Companion Animals, NetherlandsĀ·View original on PubMed ā
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Original publication title: A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
- Species:
- dog
Plain-English summary
A German Wirehaired Pointer with type 2 von Willebrand disease (VWD) was studied to understand the genetic cause of its bleeding disorder. Researchers identified a specific genetic variant that seems to be linked to VWD in this breed. They also found that this variant was present in other affected dogs, including German Shorthaired Pointers. The study suggests that this genetic change is likely responsible for the bleeding issues seen in these breeds. Understanding this can help veterinarians diagnose and manage VWD more effectively in affected dogs.
People also search for: German Wirehaired Pointer bleeding disorder Ā· von Willebrand disease in dogs Ā· dog genetic testing for VWD
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.
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Search related cases āOriginal publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28696025/