A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.

ABSTRACT: Inherited bleeding disorders including abnormalities of platelet number and function rarely occur in a variety of dog breeds, but are probably underdiagnosed. Genetically characterized canine forms of platelet disorders provide valuable large animal models for understanding similar platelet disorders in people. Breed-specific disease associated genetic variants in only eight different genes are known to cause intrinsic platelet disorders in dogs. However, the causative genetic variant in many dog breeds has until now remained unknown. Four cases of a mild to severe bleeding disorder in Cocker Spaniel dogs are herein presented. The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (B

SUBMITTER: Gentilini F 

PROVIDER: S-EPMC6726462 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature