P2RY12 Receptor Platelet Disorder

Other Names: Platelet disorder of Greater Swiss Mountain Dog
Affected Genes: P2RY12
Inheritance: Autosomal Recessive
Mutation: chr23:45909987-45909989 (canFam3): 3 bp deletion (del CTC)
Breed(s): Greater Swiss Mountain Dog

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Common Symptoms

P2RY12 receptor platelet disorder is an inherited bleeding disorder affecting Greater Swiss Mountain Dogs. Affected dogs have abnormal platelet activity. Platelets are blood cells that are necessary for the normal clotting of blood. Affected dogs typically appear healthy but can have nosebleeds and bleed from the mouth when juvenile teeth are lost. Affected dogs are often not identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.

Testing Tips

Genetic testing of the P2RY12 gene will reliably determine whether a dog is a genetic Carrier of P2RY12 receptor platelet disorder. P2RY12 receptor platelet disorder 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 P2RY12 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms can be mild, genetic testing should be performed before breeding. 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

  • Boudreaux MK, Martin M. P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol. 2011 Jun; 40(2):202-6. [PubMed: 21554368]