OMIA 001000-9615 : Thrombasthenia in Canis lupus familiaris |
In other species:
horse
Possibly relevant human trait(s) and/or gene(s) (MIM number):
273800
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2000
Cross-species summary:
More specifically called Glanzmann thrombasthenia.
Molecular basis:
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Lipscomb et al. (2000) reported "a 14-base insertion in exon 13 and defective splicing of intron 13 in the alphaIIb gene [ITGA2B]" which "disrupted the fourth alphaIIb calcium-binding domain, caused a shift in the reading frame and resulted in a premature termination codon. Possible consequences of this mutation include decreased alphaIIb mRNA stability and production of truncated alphaIIb protein that lacks the transmembrane and cytoplasmic domains and a large portion of the extracellular domain".
Boudreaux et al. (2001) reported a "single nucleotide change at position G1193 (1100) . . . detected in exon 12 of the gene encoding for platelet GPIIb in 2 affected Otterhounds. . . . This nucleotide change would result in substitution of histidine for aspartic acid at position 398 (367) within the third calcium-binding domain of GPIIb"
Breed: Great Pyrenees. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ITGA2B | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | Canis lupus familiaris | 9 | NC_006591.3 (19049643..19064019) | ITGA2B | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Great Pyrenees | Thrombasthenia | ITGA2B | splicing | "a 14-base insertion in exon 13 and defective splicing of intron 13" | 2000 | 11105947 | ||||||||
| Scottish Deerhound | Thrombasthenia | ITGA2B | missense | c.1100G>C | p.D367H | 2001 | 11703027 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 | Haysom, L.Z., Kennerly, R.M., Müller, R.D., Smith-Carr, S., Christopherson, P.W., Boudreaux, M.K. : | |
| Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. J Vet Intern Med 30:642-646, 2016. Pubmed reference: 26764135. DOI: 10.1111/jvim.13825. | ||
| 2011 | Fang, J., Jensen, ES., Boudreaux, MK., Du, LM., Hawkins, TB., Koukouritaki, SB., Cornetta, K., Wilcox, DA. : | |
| Platelet gene therapy improves hemostatic function for integrin {alpha}IIb{beta}3-deficient dogs. Proc Natl Acad Sci U S A 108:9583-9588, 2011. Pubmed reference: 21606353. DOI: 10.1073/pnas.1016394108. | ||
| 2004 | Brdecka, DJ., Adin, CA., Boudreaux, MK., Crawford, EC., Randall, SR. : | |
| Successful ovariectomy in a dog with Glanzmann thrombasthenia. J Am Vet Med Assoc 224:1796-8, 1788, 2004. Pubmed reference: 15198264. | ||
| 2003 | Niemeyer, GP., Boudreaux, MK., Goodman-Martin, SA., Monroe, CM., Wilcox, DA., Lothrop, CD. : | |
| Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation. Exp Hematol 31:1357-62, 2003. Pubmed reference: 14662345. | ||
| 2001 | Boudreaux, M.K., Catalfamo, J.L. : | |
| Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds American Journal of Veterinary Research 62:1797-1804, 2001. Pubmed reference: 11703027. | ||
| Boudreaux, M.K., Lipscomb, D.L. : | ||
| Clinical, biochemical, and molecular aspects of Glanzmann's thrombasthenia in humans and dogs Veterinary Pathology 38:249-260, 2001. Pubmed reference: 11355654. | ||
| 2000 | Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : | |
| Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a splicing defect of intron 13 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947. | ||
| 1996 | Boudreaux, M.K., Kvam, K., Dillon, A.R., Bourne, C., Scott, M., Schwartz, K.A., Toiviokinnucan, M. : | |
| Type I Glanzmanns thrombasthenia in a Great Pyrenees dog Veterinary Pathology 33:503-511, 1996. Pubmed reference: 8885176. | ||
| 1993 | Brooks, M., Catalfamo, J. : | |
| Buccal Mucosa Bleeding Time Is Prolonged in Canine Models of Primary Hemostatic Disorders Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434. | ||
| 1986 | Patterson, W.R., Kunicki, T.J., Bell, T.G. : | |
| Two-dimensional electrophoretic studies of platelets from dogs affected with basset hound hereditary thrombopathy: a thrombasthenia-like aggregation defect. Thromb Res 42:195-203, 1986. Pubmed reference: 3715800. | ||
| 1974 | Jones, D.R., Hill, F.W. : | |
| Suspected thrombasthenia in a shetland sheepdog. Vet Rec 94:558-9, 1974. Pubmed reference: 4428600. | ||
| 1972 | Yakeley, W.L., Streeter, R.J. : | |
| Transient thrombasthenia in a dog (a case report). Vet Med Small Anim Clin 67:1193-6, 1972. Pubmed reference: 4484966. | ||
| 1967 | Dodds, WJ. : | |
| Familial canine thrombocytopathy. Thromb Diath Haemorrh Suppl 26:241-8, 1967. Pubmed reference: 6064862. |
Edit History
- Created by Frank Nicholas on 04 Nov 2010
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 28 Aug 2016