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SPAID Shar Pei Autoinflammatory Disease
| Acronym: | SPAID |
| Gene: | MTBP |
| Mutation: | c.2623G>A |
| Inheritance: | Autosomal dominant with incomplete penetrance |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
SPAID (Shar Pei autoinflammatory disease), also known as Familiar Shap Pei Fever (FSF), is an inherited disorder specific to affect this dog breed. The disorder is characterized by spontaneously occurring inflammation symptoms such as fever, swollen joints, ear, and skin problems, and arthritis. SPAID is equivalent to familial Mediterranean fever (FMF), or recurrent fever syndrome, in human patients. The average age of first symptoms occurrence is around 2.7 years of age, however, it is possible for symptoms to occur earlier and also later. The earliest symptoms were recognized in a dog of 18 months of age. Clinical signs include combinations of inflammatory types fever, arthritis, erythema, and ear and skin problems, such as thickened and pasty skin, otitis, eye inflammation, and intestinal inflammations. In severe cases of the disorder, renal failure may occur. In such severe cases, dogs are usually euthanized for humane reasons.
Histopathologic examination reveals an accumulation of amyloid in the salivary gland, liver, pancreas, kidney, and other organs. Also, inflammatory processes in the skin can be observed. Shar Pei Autoinflammatory disease (SPAID) has been linked to mutations within the MTBP gene. Mutation within this gene results in alteration of binding affinity of MTPB protein to MDM2, and induction of proinflammatory effects. It is assumed that the gene locus responsible for thick and wrinkled skin, which is associated with hyaluronan synthesis, in Shar-Pei might be close to the causative variant for SPAID. The disorder is inherited in an autosomal dominant pattern with incomplete penetrance.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Metzger, J., Nolte, A., Uhde, A. K., Hewicker-Trautwein, M., & Distl, O. (2017). Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC genomics, 18(1), 348. doi:10.1186/s12864-017-3737-z
Olsson, M., Kierczak, M., Karlsson, Å., Jabłońska, J., Leegwater, P., Koltookian, M., … Meadows, J. R. S. (2016). Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics, 17(1). doi:10.1186/s12864-016-2619-0