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Ehlers-Danlos Syndrome (Doberman Pinscher Type)

Ehlers-Danlos Syndrome (Doberman Pinscher Type) is an inherited connective tissue disorder in Doberman Pinschers, characterized by hypermobile joints, fragile blood vessels, and stretchy, easily bruised skin.

Affected Genes: ADAMTS2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr11:2532936: C>T

Breed: Doberman Pinscher

General Information: Ehlers-Danlos Syndrome (Doberman Pinscher Type) is a genetic condition affecting Doberman Pinschers, typically appearing by 8 weeks of age. Affected dogs exhibit loose joints that can dislocate easily, fragile blood vessels prone to bruising, and overly elastic skin that tears easily and can be stretched beyond the normal range seen in healthy dogs. Signs may include visible scars from previous injuries, swollen eyes, and joint inflammation. Due to the severity of symptoms and poor quality of life, affected dogs are often euthanized.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the ADAMTS2 gene identifies dogs as carriers of Ehlers-Danlos Syndrome (Doberman Pinscher Type). This disease follows an Autosomal Recessive inheritance pattern, where dogs need two copies of the mutated gene (one from each parent) to develop symptoms. Carriers themselves do not show clinical signs of the disease. However, breeding two carriers increases the risk of producing affected offspring. Each puppy from such a pairing has a 25% chance of inheriting two copies of the mutated gene and thus being affected, a 50% chance of inheriting one copy and being a carrier like the parents, and a 25% chance of inheriting no copies and being clear of the mutation. Reliable genetic testing before breeding is crucial to prevent passing on the mutation and to maintain the health of future generations. Breeding practices should avoid mating known carriers to each other to prevent the birth of affected puppies. Doberman Pinschers that test negative for the mutation do not carry the risk of producing affected offspring.

References:
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 50(5):543-545.