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Degenerative Myelopathy Early-Onset Risk Modifier (Pembroke Welsh Corgi Type)

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Test Overview:

Testing for both the SOD1 and SP110 mutations is highly recommended in Pembroke Welsh Corgis. Breeding strategies should focus on avoiding pairings that can produce puppies homozygous for the SOD1 mutation. Reducing the frequency of the SOD1 mutation will most effectively lower the risk of DM in the breed. Selection against the SP110 variant is not warranted without concurrent SOD1 risk. However, knowing a dog's SP110 status helps breeders understand and mitigate the risk for early DM onset and inform puppy placements. Maintaining genetic diversity while reducing disease risk is crucial, so decisions should be balanced and consult veterinary geneticists as needed.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SP110

Variant Detected:

chr25:42439453 (canFam3): C/T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

Genetic testing of the SP110 gene in Pembroke Welsh corgis will reliably determine if a dog is a genetic carrier of degenerative myelopathy modifier (Pembroke Welsh corgi type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/27185954/ Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595] Coates JR, March PA, Oglesbee M, Ruaux CG, Olby NJ, Berghaus RD, O'Brien DP, Keating JH, Johnson GS, Williams DA. Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med. 2007 Nov-Dec; 21(6):1323-31. [PubMed: 18196743] Coates JR, Wininger FA. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 2010 Sep; 40(5):929-50. [PubMed: 20732599] Ivansson EL, Megquier K, Kozyrev SV, Murén E, Körberg IB, Swofford R, Koltookian M, Tonomura N, Zeng R, Kolicheski AL, Hansen L, Katz ML, Johnson GC, Johnson GS, Coates JR, Lindblad-Toh K. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016 May 31;113(22). [PubMed: 27185954] Shelton GD, Johnson GC, O’Brien DP, Katz ML, Pesayco JP, Chang BJ, Mizisin AP, Coates JR. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. J Neurol Sci. 2012 Jul 15;318(1-2):55-64. [PubMed: 22542607] Zeng R, Coates JR, Johnson GC, Hansen L, Awano T, Kolicheski A, Ivansson E, Perloski M, Lindblad-Toh K, O'Brien DP, Guo J, Katz ML, Johnson GS. Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. J Vet Intern Med. 2014 Feb 13. doi: 10.1111/jvim.12317. [PubMed: 24524809]

Associated Breed(s):

Pembroke Welsh Corgi,

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