Bleeding Disorder

Gene: P2RY12

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, P2RY12 gene; c.516_518 del, p.(S173 del)

Medical system: Blood

Breeds: American Staffordshire Terrier/Amstaff, Bichon Frise, Boston Terrier, Boxer, Greater Swiss Mountain Dog, Havanese

References:

OMIA link: [1564-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Flores RS, Boudreaux, MK, Vasquez B, et al. (2017) Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 46:569-574.  [pubmed/28800150]

Boudreaux MK, Martin M. (2011) P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 40:202-206.  [pubmed/21554368]