Dystrophic Epidermolysis Bullosa (Golden Retriever Type)
Affected Genes: COL7A1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr20:40455275: G>A
Breed: Golden Retriever
Goldendoodle*
General Information: Dystrophic epidermolysis bullosa (DEB) is a genetic skin disease in dogs, evident from birth, characterized by extremely fragile skin that easily forms blisters, ulcers, and scars, especially on the face, foot pads, genital areas, and ears. Affected dogs also develop painful blisters and ulcers in the mouth and esophagus, which persist into adulthood and can lead to infections. Although skin blistering often ceases around 8 months of age, the mucous membrane ulcerations continue to cause issues. These dogs are often smaller than their littermates, likely due to the difficulties in eating caused by the 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 of the COL7A1 gene helps determine if a dog is a carrier of dystrophic epidermolysis bullosa. This condition is inherited in an autosomal recessive pattern, meaning dogs need two copies of the mutated gene to develop the disease. Carrier dogs typically do not show symptoms, but if two carriers are bred together, each pup has a 25% chance of being affected and a 50% chance of being a carrier. To prevent the disease in offspring, breeding two carriers is not recommended. Dogs that are not carriers of the mutation pose no increased risk of having affected pups.
References:
Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 12(15):1897-1905.
Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol. 2011 131(10):2069-2078.
Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G. Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. J Invest Dermatol. 2000 115(1):135-137.