OMIA 002294-9615 : Inflammatory myopathy, SLC25A12-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612949 (trait) , 603667 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

History: Shelton et al. (2019): "This report is the first description of a SLC25A12 variant resulting in an inflammatory myopathy in any species and reveals a complex pattern of metabolomic changes associated with this variant."

Molecular basis: Shelton et al. (2019): "After filtering these protein-coding homozygous variants against a dog genetic variant database . . . only one was unique to the sequenced case; a leucine to proline mutation (chr36:g.16,219,219A>G; c.1046T>C; p.L349P) within the SLC25A12 gene."

Clinical features: Shelton et al. (2019): "Clinical evaluations including general physical and neurological examinations supported a neuromuscular disease."

Pathology: Shelton et al. (2019): "Histopathology of muscle biopsies confirmed an inflammatory myopathy and immune-mediated, infectious and dystrophic disorders were considered."

Breed: Dutch Shepherd dog.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 Canis lupus familiaris 36 NC_051840.1 (16511922..16305983) SLC25A12 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
1262 Dutch Shepherd dog Inflammatory myopathy, SLC25A12-related SLC25A12 missense Naturally occurring variant CanFam3.1 36 g.16219219A>G c.1046T>C p.(L349P) chr36:g.16,219,219A>G; c.1046T>C; p.L349P (Shelton et al., 2019) 2019 31594244

Reference


2019 Shelton, G.D., Minor, K.M., Li, K., Naviaux, J.C., Monk, J., Wang, L., Guzik, E., Guo, L.T., Porcelli, V., Gorgoglione, R., Lasorsa, F.M., Leegwater, P.J., Persico, A.M., Mickelson, J.R., Palmieri, L., Naviaux, R.K. :
A mutation in the mitochondrial aspartate/glutamate carrier leads to a more oxidizing intramitochondrial environment and an inflammatory myopathy in Dutch shepherd dogs. J Neuromuscul Dis 6:485-501, 2019. Pubmed reference: 31594244. DOI: 10.3233/JND-190421.

Edit History


  • Created by Frank Nicholas on 30 Oct 2020
  • Changed by Frank Nicholas on 30 Oct 2020