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OMIA 001660-9615 : Centronuclear myopathy 2, BIN1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 255200 (trait) , 601248 (gene)

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_051823.1 (24808041..24860795) BIN1 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 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
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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