VWD1 Type I von Willebrand's disease
(Dobermann pinscher)


Type I von Willebrand's disease (VWD1) is a bleeding disorder characterized by the abnormally low production of a protein found in the blood called von Willebrand's factor which plays a key role in the complex process of clotting a damaged blood vessel.

In Dobermann Pinschers and several other breeds of dogs, von Willebrand disease (vWd) type I is caused by a G→A transversion of the last nucleotide of von Willebrand factor (vWf) exon 43 (c.7437G > A). The mutation activates a cryptic splice site a few nucleotides upstream of the normal splice site, leading to a frame shift that results in the formation of a truncated protein of 119 amino acids. At least thirty different breeds are affected but the Dobermann Pinscher is the breed with the highest incidence of VWD. Of 15,000 Dobermanns screened in a research study, more than 70% were found to be affected or carriers of the disease. Fortunately, most of these were not showing signs of the disease at the time of testing. However, the number of Dobermanns with a history of bleeding appears to be on the rise. Although Dobermans are commonly affected, they usually have the mildest form of the disease. The average age at diagnosis for this breed is about four years of age. The inheritance of the disease is autosomal recessive

Considering the high diffusion of the VWD1 in Dobermanns’ population, Vetogene developed a genetic test differentiating among affected, carrier (asymptomatic, in rare cases with mild symptoms) and normal dogs.


Results and interpretation:

wt/wt: homozygous wild type, no mutation on the VWD1 gene

(0/2 alleles carrying G→A transversion) → Healthy Dobermann 


wt/mut: Heterozygous for the transversion on the VWD1 gene

(1/2 allele carrying G→A transversion) → Carrier Dobermann 


mut/mut: homozygous for the deletion on the VWD1 gene

(2/2 alleles carrying G→A transversion) → Affected Dobermann 


Reference publication:

Two novel real-time PCR methods for genotyping the von Willebrand disease type I mutation in Doberman Pinscher dogs. Gentilini et al. The Veterinary Journal 197 (2013) 457–460