OMIA:001468-9615 : Multiple system degeneration, SERAC1-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614725 (gene) , 614739 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Species-specific name: Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy

Species-specific symbol: CMSD

Mapping: O'Brien et al. (2005) mapped this disorder to a 15Mb region of chromosome CFA1

Molecular basis: Stee et al. 2023: "This disease has been associated [in a non-peer reviewed conference proceeding] with 2 distinct breed-specific autosomal recessive variants in SERAC1, respectively a nonsense variant (XM_038654522.1:c.1536G>A (p.[Trp512*])) in the Kerry Blue Terrier and a 4-bp deletion (XM_038654522.1:c.182+1_182+4del) in the Chinese Crested [Guo et al., 2013]."

Clinical features: Stee et al. 2023: "This disease has an onset of signs between 9 weeks and 6 months of age. Dogs initially present a mild intention tremor and stiffness in thoracic limb gait, which progresses within 3 to 4 months to severe hypermetric ataxia, spasticity, truncal sway, wide-based stance, delayed postural reactions, and decreased menace response [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]. Signs progress to akinesia, inability to stand and euthanasia by 1 to 2 years of age. Cerebellar atrophy and T2W hyperintensity at the level of the caudate nuclei, putamen, and substantia nigra are visible on MRI in dogs affected for several weeks [O'Brien et al., 2005; de Lahunta et al., 2021]."

Pathology: Stee et al. 2023: "Macroscopic changes in advanced cases include a decreased cerebellar size (6%-9% of total brain weight) and necrosis of the caudate nuclei, putamen, and substantia nigra. Microscopically, an ischemic degeneration of Purkinje cells is seen first, followed by Purkinje cell and secondary granule cell loss. With chronicity, degeneration occurs in the olivary nuclei, followed by acute bilateral degeneration of caudate nuclei and substantia nigra neurons [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]."

Breeds: Chinese Crested (Dog) (VBO_0200345), Ibizan Hound (Dog) (VBO_0200688), Kerry Blue Terrier (Dog) (VBO_0200764).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SERAC1 serine active site containing 1 Canis lupus familiaris 1 NC_051805.1 (47837738..47786357) SERAC1 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 Year Published PubMed ID(s) Acknowledgements
1581 Kerry Blue Terrier (Dog) Multiple system degeneration SERAC1 nonsense (stop-gain) Naturally occurring variant 1 c.1536G>A p.(Trp512*) XM_038654522.1; published in conference proceedings, coordinates in this table as reported by Stee et al. 2023 (PMID:37341581) 2013 Reference not in PubMed; see OMIA 001468-9615 for reference details
1582 Chinese Crested (Dog) Multiple system degeneration SERAC1 splicing Naturally occurring variant 1 c.182+1_182+4del XM_038654522.1; published in conference proceedings, coordinates in this table as reported by Stee et al. 2023 (PMID:37341581) 2013 Reference not in PubMed; see OMIA 001468-9615 for reference details

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001468-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Stee, K., Van Poucke, M., Lowrie, M., Van Ham, L., Peelman, L., Olby, N., Bhatti, S.F.M. :
Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med 37:1306-1322, 2023. Pubmed reference: 37341581. DOI: 10.1111/jvim.16742.
2022 St Jean, S.C., Jortner, B.S., Doan, R.N., Dindot, S.V., Johnson, G.S., Bullock, G., Whitley, D.B., Levine, J.M., Hancock, S.K., Ambrus, A., Porter, B.F. :
Pathologic characterization of canine multiple system degeneration in the Ibizan hound. Vet Pathol 59:132-137, 2022. Pubmed reference: 34490804. DOI: 10.1177/03009858211043088.
2021 de Lahunta, A., Glass, E., Kent, M. :
Cerebellum. In: Veterinary Neuroanatomy and Clinical Neurology. A DeLahunta, E Glass, M Kent, eds. 5th ed. Philadelphia: Elsevier :374-413, 2021.
2013 Guo, J., Zeng, R., Johnson, G.S., et al. :
Canine multiple system degeneration is associated with distinct SERAC1 mutations in two different dog breeds. Proceedings of the 63rd Annual Meeting of the American Society of Human Genetics; October 22-26, 2013; Boston, USA. , 2013.
2005 O'Brien, DP., Johnson, GS., Schnabel, RD., Khan, S., Coates, JR., Johnson, GC., Taylor, JF. :
Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered 96:727-34, 2005. Pubmed reference: 15958791. DOI: 10.1093/jhered/esi086.
1983 Montgomery, D.L., Storts, R.W. :
Hereditary striatonigral and cerebello-olivary degeneration of the Kerry blue terrier. I. Gross and light microscopic central nervous system lesions. Vet Pathol 20:143-59, 1983. Pubmed reference: 6836871. DOI: 10.1177/030098588302000202.
1978 Deforest, M.E., Eger, C.E., Basrur, P.K. :
Hereditary cerebellar neuronal abiotrophy in a Kerry Blue Terrier dog. Can Vet J 19:198-202, 1978. Pubmed reference: 698901.
1976 de Lahunta, A. :
Hereditary cerebellar cortical and extrapyramidal nuclear abiotrophy in Kerry Blue Terriers. Proceedings of the Twentieth World Veterinary Congress, Thessaloniki 1:120-128, 1976.
de Lahunta, A. :
Hereditary neuronal abiotrophy in Kerry Blue Terriers with cerebellar ataxia Anatomia, Histologia and Embryologia (Zentralblatt fur Veterinarmedizin) 5:80 only, 1976.
de Lahunta, A., Averill, D.R. :
Hereditary cerebellar cortical and extrapyramidal nuclear abiotrophy in Kerry Blue terriers Journal of the American Veterinary Medical Association 168:1119-1124, 1976. Pubmed reference: 931776.
1975 de Lahunta, A. :
Hereditary neuronal abiotrophy in Kerry Blue Terriers with cerebellar ataxia Proceedings of the Twentieth World Veterinary Congress, Thessaloniki 1:30-31, 1975.
1946 Metler, FA, Goss, LJ :
Canine chorea due to striatocerebellar degeneration of unknown etiology. J Am Vet Med Assoc 108:377–384, 1946.

Edit History


  • Created by Frank Nicholas on 21 Jun 2009
  • Changed by Imke Tammen2 on 12 Feb 2022
  • Changed by Imke Tammen2 on 23 Jun 2023