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Exfoliative Cutaneous Lupus Erythematosus (ECLE)

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Test Overview:

Exfoliative Cutaneous Lupus Erythematosus affects dogs and is an inherited skin disease. Affected dogs (usually within a year of age) will have with crusty, reddened lesions on the ears, muzzle, and back. The lesions can progress to the legs, chest, and abdomen. Dogs develop scarring and hair loss in the affected areas and may have swollen lymph nodes. Dogs affected by the disease can develop painful, swollen joints in the late stages of the disease and may walk with a stiff hunched gait. Treatment is not usually effective, and affected dogs are often humanely euthanised due to the severity of the disease.

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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