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Von Willebrand Disease Type 3 (VWD3) - Scottish Terrier Type
| Acronym: | VWD3 |
| Gene: | VWF |
| Mutation: | c.255del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Von Willebrand Disease is the most common genetic bleeding disorder in dogs resulting from a deficiency of von Willebrand factor (vWF). There are numerous inherited bleeding disorders known to affect dogs and all of them show a defect in primary hemostasis, coagulation, or breakdown of clots and are almost always caused by variants in genes interfering with platelet function. Von Willebrand factor is a glycoprotein that plays a crucial role in platelet adhesion to the vessel wall during the formation of the primary hemostatic clog and its deficiency causes excessive bleeding in affected dogs. Affected dogs also bruise easily, and have frequent nosebleeds and bleeding in gums and joints. There are three types of von Willebrand disease found in dogs so far depending on a specific mutation that occurred. This type 3 of VWD detected in Scottish Terrier dogs is a consequence of a deletion within the VWF gene.
Von Willebrand Disease Type 3 found in Scottish Terrier dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated VWD gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early genetic testing can help identify affected dogs that carry the mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Venta, P. J., Li, J., Yuzbasiyan-Gurkan, V., Brewer, G. J., Schall, W. D. (2000). Mutation causing von Willebrands disease in Scottish Terriers. Journal of veterinary internal medicine, 14(1), 10–19. https://doi.org/10.1892/0891-6640(2000)0142.3.co;2
Thomas J. S. (1996). von Willebrand s disease in the dog and cat. The Veterinary clinics of North America. Small animal practice, 26(5), 1089–1110. https://doi.org/10.1016/s0195-5616(96)50057-4
Denis, C. V., & Wagner, D. D. (1999). Insights from von Willebrand disease animal models. Cellular and molecular life sciences : CMLS, 56(11-12), 977–990. https://doi.org/10.1007/s000180050487