OMIA 001097-9615 : Necrotising encephalopathy, subacute, of Leigh in Canis lupus familiaris |
Drögemüller et al. (2020) identified the likely cause of ten "SNE-affected purebred Yorkshire terriers" as "an indel variant in exon 2 [of the SLC19A3 gene], that is predicted to lead to a frameshift and to truncate about 86% of the wild type coding sequence".
Clinical features: As summarised by Vernau et al. (2013), "Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis." Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SLC19A3 | solute carrier family 19 (thiamine transporter), member 3 | Canis lupus familiaris | 25 | NC_051829.1 (40695609..40657948) | SLC19A3 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Alaskan Husky | Necrotising encephalopathy, subacute, of Leigh | SLC19A3 | insertion, small (<=20) | 25 | c.624 insTTGC | 2013 | 23469184 | |||||||
Yorkshire Terrier | Juvenile-onset necrotizing encephalopathy | SLC19A3 | delins, gross (>20) | CanFam3.1 | 25 | g.40417857_40417862delins35 | c.205_210delins35 | p.Pro69Ilefs*45 | "a 35 bp insertion replacing 6 bp and thereby disturbing the correct reading frame"; XM_022409850.1:c.205_210delins35; XP_022265558.1:p.Pro69Ilefs*45 (Drögemüller et al., 2020) | 2020 | 33081289 |
References
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.
2020 | Drögemüller, M., Letko, A., Matiasek, K., Jagannathan, V., Corlazzoli, D., Rosati, M., Jurina, K., Medl, S., Gödde, T., Rupp, S., Fischer, A., Luján Feliu-Pascual, A., Drögemüller, C. : | |
<i>SLC19A3</i> Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy. Genes (Basel) 11:, 2020. Pubmed reference: 33081289. DOI: 10.3390/genes11101215. | ||
2015 | Vernau, K., Napoli, E., Wong, S., Ross-Inta, C., Cameron, J., Bannasch, D., Bollen, A., Dickinson, P., Giulivi, C. : | |
Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1. Brain Pathol 25:441-53, 2015. Pubmed reference: 25117056. DOI: 10.1111/bpa.12188. | ||
2013 | Vernau, K.M., Runstadler, J.A., Brown, E.A., Cameron, J.M., Huson, H.J., Higgins, R.J., Ackerley, C., Sturges, B.K., Dickinson, P.J., Puschner, B., Giulivi, C., Shelton, G.D., Robinson, B.H., DiMauro, S., Bollen, A.W., Bannasch, D.L. : | |
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. PLoS One 8:e57195, 2013. Pubmed reference: 23469184. DOI: 10.1371/journal.pone.0057195. | ||
2009 | Baiker, K., Hofmann, S., Fischer, A., Gödde, T., Medl, S., Schmahl, W., Bauer, M.F., Matiasek, K. : | |
Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA. Acta Neuropathol 118:697-709, 2009. Pubmed reference: 19466433. DOI: 10.1007/s00401-009-0548-6. | ||
2000 | Brenner, O., Wakshlag, J.J., Summers, B.A., de, Lahunta, A. : | |
Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome) Acta Neuropathologica 100:50-62, 2000. Pubmed reference: 10912920. | ||
1999 | Wakshlag, J.J., de, Lahunta, A., Robinson, T., Cooper, B.J., Brenner, O., O'Toole, T.D., Olson, J., Beckman, K.B., Glass, E., Reynolds, A.J. : | |
Subacute necrotising encephalopathy in an Alaskan husky Journal of Small Animal Practice 40:585-589, 1999. Pubmed reference: 10664957. | ||
1996 | Sawashima, Y., Sawashima, K., Taura, Y., Shimada, A., Umemura, T. : | |
Clinical and pathological findings of a Yorkshire terrier affected with necrotizing encephalitis Journal of Veterinary Medical Science 58:659-661, 1996. Pubmed reference: 8844603. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 20 May 2013
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 15 May 2020
- Changed by Frank Nicholas on 23 Oct 2020