Thrombopathia

Gene: RASGPRP2

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.

Mutations:

Spitz mutation: Insertion, RASGRP2 gene; c.452 duplication, p.(D151E fs)

Basset Hound mutation: Délétion, RASGRP2 gene; c.509_511 dél, p.(F170 dél)

Landseer mutation: Substitution, RASGRP2 gene; c.982 C>T, p.(R328 STOP)

Medical system: Blood

Breeds: American Eskimo Dog, Basset Hound, Landseer, Pomeranian, Rottweiler

References: 

OMIA: [2433-9615]

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]

Cortese L, Christopherson PW, Pelagalli A. (2020) Platelet function and therapeutic applications in dogs: current status and future prospects. Animals (Basel) 10(2):201.  [pubmed/31991713]

Boudreaux MK. (2012) Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) 22:30-41. [pubmed/22316339]

Boudreaux, MK, Catalfamo JL, Klok M. (2007) Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92.  [pubmed/17656327]