OMIA 000690-9615 : Myoclonus epilepsy of Lafora in Canis lupus familiaris |
Hajek et al. (2016) reported the same expansion variant in two affected Beagles.
Barrientos et al. (2019) reported the "previously described 12‐bp repeat expansion" in an affected Chihuahua.
Kehl et al. (2019) reported homozygosity of the 12-bp expansion in an affected Welsh Corgi (Pembroke).
Genetic testing: Barrientos et al. (2019): "WGS [whole-genome sequencing] based on a PCR‐free DNA library is a suitable method for genotyping this variant. " Breeds: Basset Hound, Beagle, Chihuahua, Corgi, Miniature Poodle, Miniature Wirehaired Dachshund, Pointer, Standard Poodle. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
NHLRC1 | NHL repeat containing E3 ubiquitin protein ligase 1 | Canis lupus familiaris | 35 | NC_051839.1 (17028403..17027204) | NHLRC1 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Beagle Chihuahua Miniature Wirehaired Dachshund Pembroke Welsh Corgi | Myoclonus epilepsy of Lafora | NHLRC1 | repeat variation | 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1) | 2005 | 15637270 |
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.
2019 | Barrientos, L., Maiolini, A., Häni, A., Jagannathan, V., Leeb, T. : | |
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. Anim Genet 50:118-119, 2019. Pubmed reference: 30525203. DOI: 10.1111/age.12756. | ||
Kehl, A., Cizinauskas, S., Langbein-Detsch, I., Mueller, E. : | ||
NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease. Anim Genet 50:413-414, 2019. Pubmed reference: 31172540. DOI: 10.1111/age.12795. | ||
2017 | Swain, L., Key, G., Tauro, A., Ahonen, S., Wang, P., Ackerley, C., Minassian, B.A., Rusbridge, C. : | |
Lafora disease in miniature Wirehaired Dachshunds. PLoS One 12:e0182024, 2017. Pubmed reference: 28767715. DOI: 10.1371/journal.pone.0182024. | ||
2016 | Hajek, I., Kettner, F., Simerdova, V., Rusbridge, C., Wang, P., Minassian, B.A., Palus, V. : | |
NHLRC1 repeat expansion in two beagles with Lafora disease. J Small Anim Pract 57:650-652, 2016. Pubmed reference: 27747878. DOI: 10.1111/jsap.12593. | ||
Uriarte, A., Maestro Saiz, I. : | ||
Canine versus human epilepsy: are we up to date? J Small Anim Pract 57:115-21, 2016. Pubmed reference: 26931499. DOI: 10.1111/jsap.12437. | ||
2013 | Bellumori, T.P., Famula, T.R., Bannasch, D.L., Belanger, J.M., Oberbauer, A.M. : | |
Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021. DOI: 10.2460/javma.242.11.1549. | ||
Ekenstedt, K.J., Oberbauer, A.M. : | ||
Inherited epilepsy in dogs. Top Companion Anim Med 28:51-8, 2013. Pubmed reference: 24070682. DOI: 10.1053/j.tcam.2013.07.001. | ||
2011 | Sainsbury, R. : | |
DNA screening for Lafora's disease in miniature wire-haired dachshunds. Vet Rec 169:292, 2011. Pubmed reference: 21908571. DOI: 10.1136/vr.d5698. | ||
2005 | Bradbury, J. : | |
Canine epilepsy gene mutation identified. Lancet Neurol 4:143, 2005. Pubmed reference: 15744941. | ||
Lohi, H., Young, E.J., Fitzmaurice, S.N., Rusbridge, C., Chan, E.M., Vervoort, M., Turnbull, J., Zhao, X.C., Ianzano, L., Paterson, A.D., Sutter, N.B., Ostrander, E.A., André, C., Shelton, G.D., Ackerley, C.A., Scherer, S.W., Minassian, B.A. : | ||
Expanded repeat in canine epilepsy. Science 307:81, 2005. Pubmed reference: 15637270. DOI: 10.1126/science.1102832. | ||
2002 | Schoeman, T., Williams, J., van, Wilpe, E. : | |
Polyglucosan storage disease in a dog resembling Lafora's disease Journal of Veterinary Internal Medicine 16:201-207, 2002. Pubmed reference: 11899039. | ||
1990 | Davis, K.E., Finnie, J.W., Hooper, P.T. : | |
Laforas Disease in a Dog Australian Veterinary Journal 67:192-193, 1990. Pubmed reference: 2165776. | ||
Jian, Z.J., Alley, M.R., Cayzer, J., Swinney, G.R. : | ||
Laforas Disease in an Epileptic Basset Hound New Zealand Veterinary Journal 38:75-79, 1990. | ||
1976 | Hegreberg, G.A., Padgett, G.A. : | |
Inherited progressive epilepsy of the dog with comparisons to Lafora's disease of man Federation Proceedings 35:1202-1205, 1976. Pubmed reference: 1261712. |
Edit History
- Created by Frank Nicholas on 18 Sep 2005
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
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- Changed by Frank Nicholas on 15 Apr 2019
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