OMIA:002814-9615 : Polioencephalopathy, MECR-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608205 (gene) , 617282 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Rawson et al. (2023): "Whole genome sequencing of Dog 1 and further genetic analyses in the family were performed. A cohort of 115 Eurasier controls was genotyped for specific variants. ... [The authors] investigations support MECR:c.823A>G [XM_038531348.1:c.823A>G; XP_038387276.1:p.(Met275Val)] as a possible causative variant for this presumed hereditary and progressive PE in these littermates, which shares striking similarities with a rare form of childhood-onset dystonia [in humans]. ... An additional homozygous missense variant in ATG4D [XM_038567309.1:c.1187C>T; XP_038423237.1:p.(Ala396Val)] was identified in the 2 most severely affected dogs, possibly suggesting additive effects." The study by Rawson et al. (2023) does not contain sufficient evidence to claim causality of either of the two reported variants and the authors concluded: "Further research is needed to establish the role of the MECR gene in dogs and the pathogenic effects of the detected variants."

Clinical features: Rawson et al. (2023): "Three Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4-6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months. ... Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy."

Breed: Eurasier (Dog) (VBO_0200512).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MECR mitochondrial trans-2-enoyl-CoA reductase Canis lupus familiaris 2 NC_051806.1 (71930048..71960986) MECR 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 Year Published PubMed ID(s) Acknowledgements
1658 Eurasier (Dog) Polioencephalopathy MECR missense Naturally occurring variant UU_Cfam_GSD_1.0 2 g.70793040A>G c.823A>G p.(M275V) XM_038531348.1; XP_038387276.1, variant reported in 3 affected dogs 2023 38041431

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002814-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Rawson, F., Christen, M., Rose, J., Paran, E., Leeb, T., Fadda, A. :
Polioencephalopathy in Eurasier dogs. J Vet Intern Med , 2023. Pubmed reference: 38041431. DOI: 10.1111/jvim.16945.

Edit History


  • Created by Imke Tammen2 on 17 Jan 2024
  • Changed by Tosso Leeb on 17 Jan 2024