OMIA:002534-9615 : Centronuclear myopathy 1, DNM2-related in Canis lupus familiaris
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 160150 (trait) , 602378 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: Autosomal dominant centronuclear myopathy
Species-specific symbol: ADCNM
Species-specific description: Böhm et al. (2022) proposed that affected dogs be called DNM2-CNM dogs.
History: This disorder was first reported by Eminaga et al. (2012).
In a letter to the editor of Veterinary Record, Eminaga et al. (2014) advised that "We would like to inform colleagues and border collie breeders that the mutation causing centronuclear myopathy in the only reported case in a border collie dog has been identified. Detailed description of the mutation will be published in a peer-reviewed paper." This discovery was published by Böhm et al. (2022).
Inheritance: Böhm et al. (2022): "In order to establish a large animal model for longitudinal and preclinical studies on the muscle disorder, we collected sperm samples from the Border Collie male and generated a dog cohort for subsequent clinical, genetic, and histological investigations. Four of the five offspring carried the DNM2 mutation and showed muscle atrophy and a mildly impaired gait."
Molecular basis: By sequencing functional candidate genes in an affected Border Collie, Böhm et al. (2022) discovered that this dog was heterozygous for a missense mutation in the DNM2 gene. The likely causal variant (c.1393C>T; R465W) happens to be the same as the most common causal variant in this gene in humans.
Breed: Border Collie.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DNM2||dynamin 2||Canis lupus familiaris||20||NC_051824.1 (51009858..50920493)||DNM2||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|
|1434||Border Collie||Centronuclear myopathy 1||DNM2||missense||Naturally occurring variant||CanFam3.1||20||g.50423497G>A||c.1393C>T||p.(R465W)||XM_005632882.3; XP_005632939.1.||2022||35244154|
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.
|2022||Böhm, J., Barthélémy, I., Landwerlin, C., Blanchard-Gutton, N., Relaix, F., Blot, S., Laporte, J., Tiret, L. :|
|A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation. Dis Model Mech :, 2022. Pubmed reference: 35244154 . DOI: 10.1242/dmm.049219.|
|2014||Eminaga, S., Cherubini, G.B., Shelton, G.D. :|
|Identification of the mutation causing centronuclear myopathy in a border collie. Vet Rec 175:124, 2014. Pubmed reference: 25081885 . DOI: 10.1136/vr.g4883.|
|2012||Eminaga, S., Cherubini, G.B., Shelton, G.D. :|
|Centronuclear myopathy in a Border collie dog. J Small Anim Pract 53:608-12, 2012. Pubmed reference: 23013377 . DOI: 10.1111/j.1748-5827.2012.01265.x.|
- Created by Frank Nicholas on 09 Mar 2022
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- Changed by Frank Nicholas on 12 Sep 2022