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