Common Symptoms
Ehlers-Danlos Syndrome (Labrador Retriever Type) is an inherited Connective Tissue disease affecting Labrador Retrievers. Affected dogs typically present prior to 2 years 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, swelling, and scars from previous injuries and are at increased risk for joint dislocation. Dogs may be euthanized due to the severity of the disease and poor quality of life.
Testing Tips
Genetic testing of the COL5A1 gene will reliably determine whether a dog is a genetic Carrier of Ehlers-Danlos Syndrome (Labrador Retriever Type, Variant 1). This diseases is inherited in an Autosomal Dominant manner meaning that dogs only need to inherit one copy of the mutated gene to develop the disease. Each pup that is born to a parent carrying one copy of the Mutation has a 50% chance of inheriting one copy of the COL5A1 gene mutation and being at-risk for the disease. 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. Dogs 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]
