OMIA:002150-9913 : Syndrome des veaux tourneurs (Turning calves syndrome) in Bos taurus (taurine cattle)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Mapping: Duchesne et al. (2017): "Genotyping of 12 affected calves followed by homozygosity mapping identified a single 3.1 Mb homozygous interval at the telomeric end of bovine chromosome 7".
Molecular basis: Duchesne et al. (2017) identified SNPs in the mapped candidate region by comparison of whole-genome sequence of two homozygous affecteds, one heterozygote and one homozygote normal. Filtering of those SNPs by consistency with presumed genotype based on pedigree, with occurrence only within this breed, and by severity of presumed function enabled Duchesne et al. (2017) to identifiy a "C/T SLC25A46 substitution [c.376C>T that] leads to replacement of an arginine by a cysteine [p.Arg126Cys], in the first transmembrane helix of the protein" as a likely causal variant.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Duchesne et al. (2017): "In the late 2000’s, such an outbreak was described in the French Rouge-des-Prés breed with a new sensorimotor polyneuropathy named “Syndrome des veaux tourneurs” (“Turning calves syndrome”) because of a propensity of the affected calves to turn around themselves before falling down [Timsit et al., 2011]. This neurodegenerative disease is characterized by an early onset of ataxia, especially of hindlimbs, and paraparesia affecting young calves (2–6 weeks old). Despite symptomatic care, nervous symptoms progress over the next months, leading to repetitive falls and ultimately resulting in permanent recumbency and inevitably euthanasia. Degenerative lesions involve both the general proprioceptive sensory and upper motor neuron motor systems [Timsit et al., 2011]."
Also, Duchesne et al. (2017) "created a mouse knock-out model and determined that disruption of this gene dramatically disturbed mitochondrial dynamics in various organs that resulted in altered metabolism and early death, indirectly confirming the gene identification in cattle."
Rouge des prés, France (Cattle) (VBO_0003581).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC25A46||solute carrier family 25 member 46||Bos taurus||7||NC_037334.1 (109737223..109763876)||SLC25A46||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|
|992||Rouge des prés, France (Cattle)||Syndrome des veaux tourneurs (Turning calves syndrome)||SLC25A46||missense||Naturally occurring variant||ARS-UCD1.2||7||g.109742796C>T||c.376C>T||p.(R126C)||2017||28376083|
Cite this entry
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.
|2017||Duchesne, A., Vaiman, A., Castille, J., Beauvallet, C., Gaignard, P., Floriot, S., Rodriguez, S., Vilotte, M., Boulanger, L., Passet, B., Albaric, O., Guillaume, F., Boukadiri, A., Richard, L., Bertaud, M., Timsit, E., Guatteo, R., Jaffrézic, F., Calvel, P., Helary, L., Mahla, R., Esquerré, D., Péchoux, C., Liuu, S., Vallat, J.M., Boichard, D., Slama, A., Vilotte, J.L. :|
|Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PLoS Genet 13:e1006597, 2017. Pubmed reference: 28376083. DOI: 10.1371/journal.pgen.1006597.|
|2011||Timsit, E., Albaric, O., Colle, M.A., Costiou, P., Cesbron, N., Bareille, N., Assié, S. :|
|Clinical and histopathologic characterization of a central and peripheral axonopathy in Rouge-des-prés (Maine Anjou) calves. J Vet Intern Med 25:386-92, 2011. Pubmed reference: 21281347. DOI: 10.1111/j.1939-1676.2010.0662.x.|
- Created by Frank Nicholas on 20 May 2018
- Changed by Frank Nicholas on 20 May 2018
- Changed by Frank Nicholas on 23 May 2018
- Changed by Frank Nicholas on 15 May 2020