OMIA 001503-9615 : Neuronal ceroid lipofuscinosis, 4A in Canis lupus familiaris |
Nolte et al. (2016) reported the same variant in another affected American Staffordshire Terrier.
Clinical features: Signs include late onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death. Pathology: Lysosomal storage inhibits intracellular and membrane trafficking, autophagy, and calcium storage, impair vesicle formation, and leads to premature neuronal apoptosis (Abitbol et al., 2010, Bellettato et al., 2010). Lesions include severe cerebellar cortical abiotrophy and remodeling with loss of Purkinje cells. Remaining Purkinje cells contain autofluorescent cytoplasmic storage material. Prevalence: In populations in the USA and France, 50% of American Staffordshire Terriers tested were carriers (Abitbol et al., 2010). Control: Relatives to affected dogs should be tested. Avoid breeding affected dogs. Carriers should be bred only to noncarriers. Genetic testing: A test is available. Breed: American Staffordshire terrier. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ARSG | arylsulfatase G | Canis lupus familiaris | 9 | NC_006591.3 (15048563..15115095) | ARSG | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
American Staffordshire terrier | Neuronal ceroid lipofuscinosis, 4A | ARSG | missense | CanFam3.1 | 9 | g.15071276G>A | c.296G>A | p.R99H | 2010 | 20679209 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
2017 | Katz, M.L., Rustad, E., Robinson, G.O., Whiting, R.E.H., Student, J.T., Coates, J.R., Narfstrom, K. : | |
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089. DOI: 10.1016/j.nbd.2017.08.017. | ||
2016 | Nolte, A., Bello, A., Drögemüller, M., Leeb, T., Brockhaus, E., Baumgärtner, W., Wohlsein, P. : | |
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierarztl Prax Ausg K Kleintiere Heimtiere 44:, 2016. Pubmed reference: 27778018. DOI: 10.15654/TPK-150766. | ||
2013 | Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. : | |
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009. | ||
Broeckx, B.J., Coopman, F., Verhoeven, G.E., Van Haeringen, W., van de Goor, L., Bosmans, T., Gielen, I., Saunders, J.H., Soetaert, S.S., Van Bree, H., Van Neste, C., Van Nieuwerburgh, F., Van Ryssen, B., Verelst, E., Van Steendam, K., Deforce, D. : | ||
The prevalence of nine genetic disorders in a dog population from belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350. DOI: 10.1371/journal.pone.0074811. | ||
2010 | Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., Hédan, B., Dréano, S., Brahimi, S., Delattre, D., André, C., Gray, F., Delisle, F., Caillaud, C., Bernex, F., Panthier, J.J., Aubin-Houzelstein, G., Blot, S., Tiret, L. : | |
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010. Pubmed reference: 20679209. DOI: 10.1073/pnas.0914206107. | ||
Bellettato, C.M., Scarpa, M. : | ||
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032. DOI: 10.1007/s10545-010-9075-9. | ||
2004 | Sisó, S., Navarro, C., Hanzlícek, D., Vandevelde, M. : | |
Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol 108:386-92, 2004. Pubmed reference: 15365721. DOI: 10.1007/s00401-004-0902-7. |
Edit History
- Created by Frank Nicholas on 21 Jul 2011
- Changed by Vicki Meyers-Wallen on 18 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Tosso Leeb on 28 May 2013
- Changed by Matthew Hobbs on 17 Dec 2014
- Changed by Frank Nicholas on 28 Oct 2016