OMIA:001000-9685 : Thrombasthenia in Felis catus
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 273800 (trait) , 607759 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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 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".
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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGA2B||integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)||Felis catus||E1||NC_058381.1 (42495858..42481491)||ITGA2B||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1245||Domestic Shorthair||Glanzmann's thrombasthenia||ITGA2B||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||E1||g.44416063del||c.1986delC||p.(P662fs)||ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020)||2020||32935881|
|2020||Li, R.H.L., Ontiveros, E., Nguyen, N., Stern, J.A., Lee, E., Hardy, B.T. :|
|Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. J Vet Intern Med :, 2020. Pubmed reference: 32935881 . DOI: 10.1111/jvim.15886.|
- Changed by Frank Nicholas on 02 Oct 2020
- Created by Frank Nicholas on 02 Oct 2020