Peer-reviewed veterinary case report
Genetic cause of severe von Willebrand disease in Havanese dogs
By Armas-Jimenez, Arly-Camila et al.·Published in Animal genetics·2025·Baker Institute for Animal Health, United States·View original on PubMed →
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Original publication title: A VWF missense variant in Havanese dogs with type 3 von Willebrand disease.
- Species:
- dog
Plain-English summary
Two Havanese puppies were diagnosed with type 3 von Willebrand disease, a serious bleeding disorder that can lead to excessive bleeding due to a lack of a specific protein in their blood. Genetic testing revealed a mutation in the von Willebrand Factor (VWF) gene that likely caused this condition. Because this type of von Willebrand disease is inherited in an autosomal recessive manner, both parents carried the gene variant. Unfortunately, there is no cure for this condition, but understanding the genetic cause can help owners manage their pets' health and prevent bleeding episodes.
People also search for: Havanese bleeding disorder · von Willebrand disease in dogs · puppy genetic testing for bleeding issues
Abstract
Quantitative and functional defects of von Willebrand Factor (VWF) cause the hereditary bleeding disorder von Willebrand disease (VWD). Three types of VWD exist; type 3 is the most severe and rare, characterized by an almost complete absence of VWF protein. In this study, we investigated the cause of type 3 VWD in a family of purebred Havanese dogs. Pedigree analysis suggested an autosomal recessive mode of inheritance. We performed whole genome sequencing of the parents and relatives of two affected siblings, revealing a novel missense variant in the VWF gene. The variant causes a cysteine to glycine substitution at residue 2571 (NP_001002932.1:p.(Cys2571Gly)) within the VWF C4 domain. This residue is highly conserved across vertebrates and plays a critical role in maintaining the structural integrity of VWF through disulfide bonds. This change probably disrupts the conformation of the C4 domain, leading to VWF concentrations undetectable by enzyme-linked immunosorbent assay in affected dogs. Genotyping confirmed an autosomal recessive mode of inheritance, and the variant was found exclusively within the family. Our findings provide new insights into the genetic basis of VWD and highlight the importance of conserved cysteine residues for VWF stability.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40504041/