Glanzmann Thrombasthenia, Type I

Gene: ITGA2B

Transmission: Autosomal

Mutations:

Great Pyrenees mutation: Duplication (splicing erreur), ITGA2B gene; c.1360_1373 dup.

Otterhound mutation: Substitution, ITGA2B gene; c.1192 G>C , p.(D398H)

Mixed breed mutation: Substitution, ITGA2B gene; c.1357 C>T, p.(R453 STOP)

Golden Retriever mutation: Deletion, ITGA2B gene; c.1924 del.C

Medical system: Blood

Breeds: Great Pyrenees, Otterhound, Yorkshire Terrier

References:

OMIA link: [1000-9615]

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, Lipscomb DL. (2001) Clinical, biochemical, and molecular aspects of Glanzmann’s thrombasthenia in humans and dogs Veterinary Pathology 38:249-260. [pubmed/11355654]