OMIA 001820-9615 : Ataxia, spinocerebellar, CAPN1-related in Canis lupus familiaris |
The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic “dancing” or “prancing” gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013). The supplementary video S1 in this publication illustrates the clinical phenotype.
Breeds: Jack Russell Terrier, Parson Russell Terrier. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
CAPN1 | calpain 1, (mu/I) large subunit | Canis lupus familiaris | 18 | NC_051822.1 (53053236..53024769) | CAPN1 | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
105 | Parson Russell Terrier | Ataxia, spinocerebellar | CAPN1 | missense | Naturally occurring variant | CanFam3.1 | 18 | g.52009339C>T | c.344G>A | p.(C115Y) | XM_540866.5; XP_540866.2 | 2013 | 23741357 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
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 | Lewis, T.W., Mellersh, C.S. : | |
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864. | ||
2016 | Gan-Or, Z., Bouslam, N., Birouk, N., Lissouba, A., Chambers, D.B., Vérièpe, J., Androschuk, A., Laurent, S.B., Rochefort, D., Spiegelman, D., Dionne-Laporte, A., Szuto, A., Liao, M., Figlewicz, D.A., Bouhouche, A., Benomar, A., Yahyaoui, M., Ouazzani, R., Yoon, G., Dupré, N., Suchowersky, O., Bolduc, F.V., Parker, J.A., Dion, P.A., Drapeau, P., Rouleau, G.A., Bencheikh, B.O. : | |
[Correction to] Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics 98:1271, 2016. Pubmed reference: 27259058. DOI: 10.1016/j.ajhg.2016.05.009. | ||
Gan-Or, Z., Bouslam, N., Birouk, N., Lissouba, A., Chambers, D.B., Vérièpe, J., Androschuk, A., Laurent, S.B., Rochefort, D., Spiegelman, D., Dionne-Laporte, A., Szuto, A., Liao, M., Figlewicz, D.A., Bouhouche, A., Benomar, A., Yahyaoui, M., Ouazzani, R., Yoon, G., Dupré, N., Suchowersky, O., Bolduc, F.V., Parker, J.A., Dion, P.A., Drapeau, P., Rouleau, G.A., Ouled Amar Bencheikh, B. : | ||
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet 98:1038-1046, 2016. Pubmed reference: 27153400. DOI: 10.1016/j.ajhg.2016.04.002. | ||
Wang, Y., Hersheson, J., Lopez, D., Hammer, M., Liu, Y., Lee, K.H., Pinto, V., Seinfeld, J., Wiethoff, S., Sun, J., Amouri, R., Hentati, F., Baudry, N., Tran, J., Singleton, A.B., Coutelier, M., Brice, A., Stevanin, G., Durr, A., Bi, X., Houlden, H., Baudry, M. : | ||
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Reports 16:79-91, 2016. Pubmed reference: 27320912. DOI: 10.1016/j.celrep.2016.05.044. | ||
2014 | Cherubini, G.B. : | |
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736826. DOI: 10.1136/vr.g1973. | ||
Palmer, T. : | ||
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736825. DOI: 10.1136/vr.g1972. | ||
2013 | Forman, O.P., De Risio, L., Mellersh, C.S. : | |
Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One 8:e64627, 2013. Pubmed reference: 23741357. DOI: 10.1371/journal.pone.0064627. | ||
2012 | Simpson, K., Eminaga, S., Cherubini, G.B. : | |
Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 170:548, 2012. Pubmed reference: 22634896. DOI: 10.1136/vr.e3642. | ||
Vanhaesebrouck, A., Franklin, R., Van Ham, L., Bhatti, S. : | ||
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. Vet Rec 171:131-2, 2012. Pubmed reference: 22872628. DOI: 10.1136/vr.e5021. | ||
2004 | Wessmann, A., Goedde, T., Fischer, A., Wohlsein, P., Hamann, H., Distl, O., Tipold, A. : | |
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med 18:515-21, 2004. Pubmed reference: 15320590. | ||
1993 | Moses, P.A. : | |
Cerebellar Ataxia in Jack Russell Terriers Veterinary Record 133:508, 1993. | ||
1991 | Cachin, M., Vandevelde, M. : | |
Congenital Tremor with Spongy Degeneration of the Central Nervous System in Two Puppies Journal of Veterinary Internal Medicine 5:87-90, 1991. Pubmed reference: 2061870. | ||
1973 | Hartley, W.J., Palmer, A.C. : | |
Ataxia in Jack Russell terriers. Acta Neuropathol 26:71-4, 1973. Pubmed reference: 4747697. |
Edit History
- Created by Frank Nicholas on 08 Jun 2013
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