OMIA 001660-9615 : Myopathy, Great Dane in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 255200

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Species-specific name: Inherited myopathy of Great Danes

Species-specific symbol: IMGD

Molecular basis: In the course of investigating BIN1 mutations as a cause of centronuclear myopathy (CNM) in humans, Böhm et al. (2013) searched for potential animal models of CNM, and alighted upon Inherited Myopathy of Great Danes as a likely model. Having five affected dogs from Canada, USA and UK at their disposal, Böhm et al. (2013) identified a causal mutation as "a homozygous AG to GG substitution of the BIN1 exon 11 acceptor splice site in five dogs from Canada, US and UK (IVS10-2A>G". The authors also reported that "The BIN1 IVS10-2A>G mutation was not found in 112 healthy Great Danes and in 35 dogs from 12 other breeds, strongly suggesting its pathogenicity." However, they did note that "Some dogs of our IMGD cohort were found to be negative for BIN1 mutations, suggesting that IMGD encompasses several disorders with similar clinical and overlapping histopathological features".

Breed: Great Dane.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BIN1 bridging integrator 1 Canis lupus familiaris 19 NC_006601.3 (23503934..23534407) BIN1 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 Dane Myopathy, Great Dane BIN1 splicing IVS10-2A>G 2013 23754947

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.
2013 Böhm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., Weis, J., Tiret, L., Laporte, J. :
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. PLoS Genet 9:e1003430, 2013. Pubmed reference: 23754947. DOI: 10.1371/journal.pgen.1003430.
2010 Chang, K.C., McCulloch, M.L., Anderson, T.J. :
Molecular and cellular insights into a distinct myopathy of Great Dane dogs. Vet J 183:322-7, 2010. Pubmed reference: 19135395. DOI: 10.1016/j.tvjl.2008.11.013.
2008 Davies, S.E., Davies, D.R., Richards, R.B., Bruce, W.J. :
Inherited myopathy in a Great Dane. Aust Vet J 86:43-5, 2008. Pubmed reference: 18271825. DOI: 10.1111/j.1751-0813.2007.00202.x.
2006 Lujan Feliu-Pascual, A., Lujan Feliu-Pascual, A., Shelton, G.D., Targett, M.P., Long, S.N., Comerford, E.J., McMillan, C., Davies, D., Rusbridge, C., Mellor, D., Chang, K.C., Anderson, T.J. :
Inherited myopathy of great Danes. J Small Anim Pract 47:249-54, 2006. Pubmed reference: 16674719. DOI: 10.1111/j.1748-5827.2006.00073.x.
McMillan, C.J., Taylor, S.M., Shelton, G.D. :
Inherited myopathy in a young Great Dane. Can Vet J 47:891-3, 2006. Pubmed reference: 17017655.
1987 Newsholme, S.J., Gaskell, C.J. :
Myopathy with core-like structures in a dog. J Comp Pathol 97:597-600, 1987. Pubmed reference: 3680647.

Edit History


  • Created by Frank Nicholas on 26 Oct 2011
  • Changed by Frank Nicholas on 28 Jun 2013