Exfoliative Cutaneous Lupus Erythematosus (ECLE)
Affected Genes: UNC93B1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr18:48444152: C>A
Breed: German Shorthaired Pointer
Vizsla
General Information: Exfoliative Cutaneous Lupus Erythematosus (ECLE) is an inherited inflammatory skin disorder that primarily affects German Shorthaired Pointers. Dogs with ECLE typically show signs of the disease within their first year of life, beginning with crusty, reddened lesions on the ears, muzzle, and back, which progressively spread to the legs, chest, and abdomen. These lesions can lead to scarring and significant hair loss in the affected areas. As the disease advances, dogs may develop swollen lymph nodes and painful, swollen joints, causing them to walk with a stiff, hunched gait. Unfortunately, there is currently no effective treatment for ECLE, and due to the severity of the symptoms, many affected dogs are often euthanized to alleviate their suffering. Early detection and genetic testing are crucial for managing and preventing this debilitating condition.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the UNC93B1 gene is essential to identify carriers of the Exfoliative Cutaneous Lupus Erythematosus (ECLE) mutation in dogs. ECLE is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to manifest the disease. Dogs carrying only one copy of the mutation (carriers) generally do not exhibit any symptoms but can pass the mutation on to their offspring. When two carriers are bred, each puppy has a 25% chance of developing ECLE and a 50% chance of being a carrier. Reliable genetic testing is critical for making informed breeding decisions to avoid mating two carriers, thereby reducing the risk of producing puppies affected by ECLE. By ensuring that only non-carrier dogs are bred, breeders can help eliminate this painful and debilitating condition from canine populations, promoting healthier and more resilient future generations.
References:
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 11(2):159.
Olivry T, Linder KE, Banovic F. Cutaneous lupus erythematosus in dogs: a comprehensive review. BMC Vet Res. 2018 ;14(1):132.
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 63(4):197-207.