Testing of dogs: SPAID

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Periodic Fever Syndrome in Shar-Pei

Recurrent Fever Syndrome in Shar-Pei

Recurrent fever syndrome, or Shar-Pei autoinflammatory disease (SPAID), is selective for the Shar-Pei breed, which is characterized by thick and heavily wrinkled skin. This is caused by increased expression of the Hyaluronan Synthase 2 (HAS2) enzyme, which results in the accumulation of hyaluronan in the skin. The excess of hyaluronan increases the risk of periodic fever syndrome by triggering an innate immune response.

The disease is characterised by five symptoms - fever, arthritis, vesicular hyaluronosis (accumulation of hyaluronic acid in the tissues), otitis (otitis of middle ear) and amyloidosis (deposition of amyloid in the tissues).

Recurrent fever syndrome is associated with mutations in the HAS2 and MTBP genes. Genomia offers a genetic test to detect the causative missense mutation c.2623G>A in the MTBP gene.

The inheritance of this mutation is autosomal incompletely dominant. The disease manifests in affected homozygotes who have inherited the mutant allele from both parents. Heterozygotes with a mutated allele from one parent will then have an increased likelihood of developing the disease compared to healthy unaffected individuals.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of puppies with this disease.

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References:

Metzger, J., Nolte, A., Uhde, A.K., Hewicker-Trautwein, M., Distl, O. : Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics 18:348, 2017. Pubmed reference: 28472921

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT