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Exfoliative Cutaneous Lupus Erythematosus (ECLE)

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Test Overview:

Test breeding animals in predisposed breeds (GSP, Vizsla) for UNC93B1 mutation. Avoid mating two carriers to prevent affected offspring. Breed carriers only to clear dogs with offspring tested before breeding. Maintain genetic diversity while working to reduce disease prevalence.

Category:

Dermatologic - Associated with the skin

Gene:

UNC93B1

Variant Detected:

chr18:c.1438C>A

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the UNC93B1 gene will reliably determine if a dog is a genetic carrier of Exfoliative Cutaneous Lupus Erythematosus.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/37222157/ Leeb T, Leuthard F, Jagannathan V, Kiener S, Letko A, Roosje P, Welle MM, Gailbreath KL, Cannon A, Linek M, Banovic F, Olivry T, White SD, Batcher K, Bannasch D, Minor KM, Mickelson JR, Hytönen MK, Lohi H, Mauldin EA, Casal ML. A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE). Genes (Basel). 2020 Feb 3;11(2):159. [PubMed: 32028618] Olivry T, Linder KE, Banovic F. Cutaneous lupus erythematosus in dogs: a comprehensive review. BMC Vet Res. 2018 Apr 18;14(1):132. [PubMed: 29669547] Wang P, Zangerl B, Werner P, Mauldin EA, Casal ML. Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Immunogenetics. 2011 Apr;63(4):197-207. [PubMed: 21132284]

Associated Breed(s):

English Pointer, German Shorthaired Pointer, German Wirehaired Pointer, German Wirehaired Pointer, Hungarian Vizsla, Hungarian Wirehaired Vizsla, Pointer,

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