OMIA:001000-9615 : Thrombasthenia in Canis lupus familiaris (dog) |
In other species: domestic cat , horse
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 273800 (trait) , 607759 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: 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 [ITGA2B] 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" Haysome et al. (2016) reported "a single nucleotide change at position 1264 in exon 13 (C1264T), [that] resulted in a nonsense mutation (CGA > TGA) at the codon encoding arginine (R) at position 422 (R422X ...) in two affected mix-breed dogs. Christopherson et al. (2017) reported in a conference proceeding a likely causal variant in a Golden Retriever as a "single nucleotide deletion at position (1924delC) in ITGA2B ... . This change results in a frameshift and premature termination codon 24 bases downstream."
Breeds:
Golden Retriever (Dog) (VBO_0200610),
Great Pyrenees (Dog) (VBO_0200629),
Mixed Breed (Dog) (VBO_0200902),
Otterhound (Dog) (VBO_0200980).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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_051813.1 (19744435..19758300) | ITGA2B | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1569 | Golden Retriever (Dog) | Thrombastenia | ITGA2B | deletion, small (<=20) | Naturally occurring variant | 9 | Published in a conference proceeding as (1924delC) | 2017 | Reference not in PubMed; see OMIA 001000-9615 for reference details | |||||||
| 80 | Otterhound (Dog) | Thrombasthenia | ITGA2B | missense | Naturally occurring variant | CanFam3.1 | 9 | g.19054488G>C | c.1192G>C | p.(D398H) | NM_001003163.2; NP_001003163.1; published as c.1193G>C / c.1100G>C; substitution of histidine for aspartic acid at position 398 (367). Coordinates in the table have been updated to a recent reference genome and or transcripts. | 2001 | 11703027 | Breed was incorrectly listed as Scottish Deerhound. Changed to Otterhound [19/5/2023] | ||
| 1568 | Mixed Breed (Dog) | Thrombasthenia | ITGA2B | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 9 | g.19057141C>T | 1357C>T | p.(R453*) | NM_001003163.2; NP_001003163.1; published as (C1264T) and (R422X), coordinates in this table have been updated to a recent reference genome | 2016 | 26764135 | |||
| 369 | Great Pyrenees (Dog) | Thrombasthenia | ITGA2B | splicing | Naturally occurring variant | CanFam3.1 | 9 | g.19057144_19057157dup | c.1360_1373dup | NM_001003163.2; NP_001003163.1; experimentally confirmed splice defect; a 14-base duplication in exon 13 and defective splicing of intron 13 | 2000 | 11105947 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001000-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Haginoya, S., Thomovsky, E.J., Johnson, P.A., Brooks, A.C. : |
| Clinical assessment of primary hemostasis: A review. Top Companion Anim Med 56-57:S1938-9736(23)00058-2:100818, 2023. Pubmed reference: 37673175. DOI: 10.1016/j.tcam.2023.100818. | |
| 2021 | Arruda, V.R., Weber, J., Samelson-Jones, B.J. : |
| Gene therapy for inherited bleeding disorders. Semin Thromb Hemost 47:161-173, 2021. Pubmed reference: 33636747. DOI: 10.1055/s-0041-1722862. | |
| 2020 | Cortese, L., Christopherson, P.W., Pelagalli, A. : |
| Platelet function and therapeutic applications in dogs: current status and future prospects. Animals (Basel) 10:201, 2020. Pubmed reference: 31991713. DOI: 10.3390/ani10020201. | |
| 2017 | Christopherson, P.W., Hill, A., Brooks, M.B., Scofield, M., King, K.B., Boudreaux, M.K. : |
| Identification of a single base deletion in the glycoprotein IIB gene causing Glanzmann thrombasthenia in a Golden Retriever. American College of Veterinary Pathologists. https://cdn.ymaws.com/www.acvp.org/resource/resmgr/Meetings_&_Events/2017_Annual _Meeting/Abstracts/2017-10-13_Abstracts-revised.pdf, 2017. | |
| 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. Am J Vet Res 62:1797-804, 2001. Pubmed reference: 11703027. DOI: 10.2460/ajvr.2001.62.1797. | |
| 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. | |
| 1999 | Brooks, M. : |
| A review of canine inherited bleeding disorders: Biochemical and molecular strategies for disease characterization and carrier detection J Hered 90:112-8, 1999. Pubmed reference: 9987916. DOI: 10.1093/jhered/90.1.112. | |
| 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. Thromb Haemost 70:777-80, 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. DOI: 10.1016/0049-3848(86)90295-1. | |
| 1974 | Jones, D.R., Hill, F.W. : |
| Suspected thrombasthenia in a shetland sheepdog. Vet Rec 94:558-9, 1974. Pubmed reference: 4428600. DOI: 10.1136/vr.94.24.558. | |
| 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
- Changed by Imke Tammen2 on 19 May 2023
- Changed by Imke Tammen2 on 21 May 2024