Shar-Pei Autoinflammatory Disease (SPAID)

(Periodic Fever Syndrome)

Genes: MTBP, HAS2

Transmission: Autosomal

Mutations:

MTBP gene: Substitution, MTBP gene; c.2623 G>A, p.(E875K)

HAS2 gene: (duplication upstream of HAS2 gene, associated but not causal for SPAID)

Medical system: Immunologic, dermal

Breeds: American Staffordshire Terrier/Amstaff, Bloodhound, Chow Chow, English Bulldog, French Bulldog, Labrador Retriever, Pug, Rottweiler, Shar Pei, Shih Tzu

References:

OMIA link: [1561-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Work M, Scudder C, Bergum Hjellegjerde K, et al. (2023) A survey on Shar Pei autoinflammatory disease in the United Kingdom. J Small Anim Pract 64:401-408.  [pubmed/36978210]

Metzger J, Nolte A, Uhde A-K, Hewickeret al. (2017) Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).  BMC Genomics 18:348. [pubmed/28472921]

Olsson M, Kierczak M, Karlsson A et al. (2016) Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics 17:299. [pubmed/27107962]

Metzger J, Distl O (2014) A study of Shar-Pei dogs refutes association of the ‘meatmouth’ duplication near HAS2 with Familial Shar-Pei Fever.  Anim Genet 45:763-4.  [pubmed/25040095]