Dystrophic Epidermolysis Bullosa (Basset Hound Type)
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.