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Dystrophic Epidermolysis Bullosa (Central Asian Ovcharka Type)

Affected Genes: COL7A1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr20:40449284 C>T

Breed: Central Asian Ovcharka

General Information: Dystrophic Epidermolysis Bullosa (Central Asian Ovcharka Type) is an inherited skin disorder in dogs characterized by fragile skin that easily blisters and tears from minor trauma or friction. This condition results from a genetic mutation that affects the production of collagen, a protein essential for skin integrity and strength. Dogs with two copies of the associated gene mutation are predisposed to Dystrophic Epidermolysis Bullosa, which can manifest shortly after birth. Symptoms include severe blistering, open sores, and scarring on the skin and mucous membranes. These symptoms can lead to chronic pain, secondary infections, and difficulty in movement due to the skin's fragility. Management includes wound care, pain management, and minimizing trauma to the skin, but there is currently no cure for this 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 specific gene associated with Dystrophic Epidermolysis Bullosa (Central Asian Ovcharka Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.


References:
Niskanen J, Dillard K, Arumilli M, Salmela E, Anttila M, Lohi H, and Hytönen MK. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 2017 12(5):e0177527.