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Dystrophic Epidermolysis Bullosa (Basset Hound Type)

Dystrophic Epidermolysis Bullosa (Basset Hound Type) is a hereditary skin disorder that manifests at birth, causing severe skin lesions and mucosal blisters, particularly on the paw pads, ears, muzzle, and mouth, often leading to early death or euthanasia in affected dogs.




Affected Genes: COL7A1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr20:40441508-40441621: 107 bp duplication with 7 bp deletion in duplicated region

Breed: Basset Hound

General Information: Dystrophic Epidermolysis Bullosa is a genetic skin disorder observed in a related group of Basset hounds, where affected dogs exhibit widespread skin lesions resembling blisters or erosions at birth. These lesions commonly appear on the paw pads, ears, and muzzle, and may cause toenail loss and develop on the mouth, tongue, and esophagus. Due to the severity of these lesions, affected dogs often die or are humanely euthanized within days of birth.

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 COL7A1 gene can identify if a dog is a carrier of Dystrophic Epidermolysis Bullosa. This disorder is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to manifest. Carrier dogs typically show no symptoms but, if bred with another carrier, have a 25% chance of producing affected pups and a 50% chance of producing carriers. To prevent affected offspring and eliminate the mutation, it is advised not to breed two carriers together. Dogs without the mutation pose no increased risk of having affected pups.

References:
Garcia TM, Kiener S, Jagannathan V, Russell DS, Leeb T. A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Genes (Basel) 2020 11(12):1458.