Dystrophic Epidermolysis Bullosa (Basset Hound Type)

Other Names: DEB
Affected Genes: COL7A1
Inheritance: Autosomal Recessive
Mutation: chr20:40932778-40932891 (canFam4): 107 bp duplication with 7 bp deletion in duplicated region

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Common Symptoms

Dystrophic Epidermolysis Bullosa is an inherited skin disorder identified in a closely related family of Basset hounds. Affected dogs typically present at birth with disseminate skin lesions resembling erosions or blisters. These lesions are present on the paw pads, ears, and muzzle. The skin around the toenails may be affected causing them to slough. Lesions may also develop in the mucosa of the mouth, tongue, and esophagus. Affected dogs typically die or are humanely euthanized within days of birth.


Breed-Specific Information for the Basset Hound

The Mutation of the COL7A1 gene associated with Dystrophic Epidermolysis Bullosa has been identified in a closely related family of Basset hounds, although its overall frequency in this breed is unknown.


Testing Tips

Genetic testing of the COL7A1 gene in basset hounds will reliably determine whether a dog is a genetic Carrier of Dystrophic Epidermolysis Bullosa. Dystrophic Epidermolysis Bullosa is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the COL7A1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Basset hounds that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


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 Dec 4;11(12):1458. [PubMed: 33291836]