Maladie auto-inflammatoire de Shar-Pei (SPAID)

(Syndrome de la fièvre périodique)

Gènes : MTBP, HAS2

Mutations :

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

Gène HAS2 : (duplication upstream du gène HAS2, associé mais pas le cause du SPAID)

Système médical : Immunologique, cutané

Races : American Staffordshire Terrier/Amstaff, Bloodhound/Chien de Saint-Hubert, Bouledogue anglais, Bouledogue français, Carlin, Chow-chow, Rottweiler, Shar Pei, Shih Tzu

Références :

Lien OMIA : [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]