Bleeding disorder in Greater Swiss Mountain Dog

In Greater Swiss Mountain Dogs, a platelet disorder that normally has no clinical signs was identified. The problem arises in trauma or surgical procedures when excessive and prolonged bleeding occurs with potentially fatal consequences.

The disorder is caused by the c.516_518del mutation in the P2RY12 gene, which encodes an ADP receptor located on platelet membranes.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Boudreaux, MK., Martin, M.: P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 40:202-206, 2011. Pubmed reference: 21554368