OMIA:001660-9615 : Centronuclear myopathy 2, BIN1-related in Canis lupus familiaris (dog)
Categories: Muscle phene
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: 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".
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BIN1||bridging integrator 1||Canis lupus familiaris||19||NC_051823.1 (24808041..24860795)||BIN1||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|
|398||Great Dane||Inherited myopathy of Great Danes||BIN1||splicing||Naturally occurring variant||CanFam3.1||19||g.23522400A>G||c.786-2A>G||p.(R262_K263insASASRPFPQ)||XM_014121413.2; XP_013976888.1; published as IVS10-2A>G, updated in this table to HGVS nomenclature||2013||23754947|
Cite this entry
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 .|
- Created by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 28 Jun 2013