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Periodic Fever Syndrome (Shar Pei Fever)
Test Overview:
Shar-Pei Autoinflammatory Disease (SPAID) is defined by ongoing episodes of fever and inflammation with no known pathogenic or autoimmune cause. SPAID is usually associated by five signs of inflammation, Familial Shar-Pei Fever (FSF), Arthritis, Vesicular Hyaluronosis, Otitis and Amyloidosis. Please Note: The genetic variant linked to SPAID has also been associated with the increased expression of Hyaluronan Synthase 2 (HAS2), the driver of long-chain hyaluronan (HA) synthesis. The elevated expression of HAS2 results in hereditary cutaneous hyaluronanosis, and the breed’s heavily thickened and wrinkled skin.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
HAS2
Variant Detected:
g.23,746,089_23,762,189dup16.1kb
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Dominant with Incomplete Penetrance
Research Citation(s):
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060080/?tool=pubmed Olsson M et al. 2011. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet. 7(3):e1001332. Olsson M et al. 2016. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics. 17(1):299
Associated Breed(s):
Shar Pei,
