OMIA 002534-9615 : Centronuclear myopathy 1, DNM2-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 160150 (trait) , 602378 (gene)

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. Obviously this name could be applied to affected dogs heterozygous with any other causal variant in the DNM2 gene.

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.

Associated gene:

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

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
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

Reference


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.

Edit History


  • Created by Frank Nicholas on 09 Mar 2022
  • Changed by Frank Nicholas on 09 Mar 2022