Common Symptoms
Ehlers-Danlos Syndrome (Doberman Pinscher Type) is an inherited Connective Tissue disease affecting Doberman Pinschers. Affected dogs present within 8 weeks of age with loose (hypermobile) joints, fragile blood vessels, and excessively elastic skin that is easily torn or bruised and can be stretched beyond limits seen in normal dogs. Dogs may display open wounds or scars from previous injuries and swollen eyes and joints. Dogs are typically euthanized due to the severity of disease and poor quality of life.
Testing Tips
Genetic testing of the ADAMTS2 gene will reliably determine whether a dog is a genetic Carrier of Ehlers-Danlos Syndrome (Doberman Pinscher Type). This disease is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ADAMTS2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Doberman pinschers that are not carriers of the mutation have no increased risk of having affected pups.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
References
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Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet. 2019 Oct;50(5):543-545.
[PubMed: 31294848]
