In other species: dog , domestic horse

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 273800 (trait) , 607759 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: More specifically called Glanzmann thrombasthenia.

History: The first report of Glanzmann's thrombasthenia in a cat was by Li et al. (2020).

Molecular basis: Li et al. (2020): "Whole genome sequencing at 30× coverage was used to identify genetic variants that segregated in the affected cat compared to 194 cats from the 99 Lives Sequencing Consortium . . . identified a homozygous c.1986delC frameshift variant [omia.variant:1245] in the integrin subunit αIIb (ITGA2B) gene that was not detected in the control population. The p.Pro662fs (ITGA2B P662X) variant terminates translation of the protein at the extracellular domain of the integrin prematurely, which is predicted to affect expression of the β3 unit".
Rivas et al. (2024) report a "novel c.1986_1987insCC autosomal recessive variant in ITGA2B" (omia.variant:1809) in a Domestic Shorthair cat with thrombocytopenia and anemia. 

Clinical features: Li et al. (2020): "A nonpedigreed male cat presented with epistaxis, severe bladder hemorrhage, and secondary urethral obstruction after cystocentesis"

Pathology: Li et al. (2020): "Platelet aggregometry identified significant impairment in platelet aggregation in response to ADP and AA compared to the control cat. Targeted protein expression analyses by flow cytometry and immunoblot analysis determined that the surface expression and total expression of the integrin, αIIbβ3, was absent."

Breed: Domestic Shorthair (Cat) (VBO_0100119).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: