Dystrophic Epidermolysis Bullosa (Discovered in the Basset Hound)
Dystrophic Epidermolysis Bullosa (DEB) is a skin disorder that causes skin fragility and blistering, as well as irritations in the oral cavity and esophagus. The associated genetic variant has been identified in the Basset Hound.
Key Signs
Fragile skin, Skin blistering, Oral lesions, Nail loss, Stunted growth, Failure to thrive, Death
Age of Onset
At birth
Present at birth
Inheritance
Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
Likelihood of the Condition
High likelihood
At risk dogs are highly likely to show signs of this disease in their lifetime.
What to Do
Here’s how to care for a dog with DEB
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
For Veterinarians
Here’s what a vet needs to know about DEB
Dystrophic Epidermolysis Bullosa is a group of inherited disorders associated with dysfunctional collagen protein. DEB is characterized by skin fragility and multifocal to coalescing skin blistering and ulceration. In affected dogs, bullae may appear within days of birth and often in areas of high friction, such as the nasal planum, dorsal muzzle, and paw pads. Ulcerations may be observed on the lips, tongue and esophagus. Skin crusting and nail sloughing may also occur. Affected puppies may appear smaller than littermates as a result of discomfort with eating. Neonatal death has also been reported in affected puppies.
Treatment is pain management, supportive care, and symptomatic depending on the severity of the dog's clinical signs. This may also include owners altering the dog's environment to reduce potential for trauma to the skin. However, general prognosis is considered poor for affected puppies and humane euthanasia is often elected based on quality of life.
For Breeders
Planning to breed a dog with this genetic variant?
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Dystrophic Epidermolysis Bullosa (Discovered in the Basset Hound) variant can be safely bred with a clear dog with no copies of the Dystrophic Epidermolysis Bullosa (Discovered in the Basset Hound) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this Dystrophic Epidermolysis Bullosa variant could develop due to a different genetic or clinical cause.
Technical Details
| Gene | COL7A1 |
|---|---|
| Variant | Insertion |
| Chromosome | 20 |
| Coordinate Start | 40,524,267 |
| Coordinate End | 40,524,380 |
All coordinates reference CanFam3.1
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References & Credit
Credit to our scientific colleagues:
Garcia, T.M., Kiener, S., Jagannathan, V., Russell, D.S., Leeb, T. (2020). A COL7A1 variant in a litter of neonatal Basset Hounds with dystrophic epidermolysis bullosa. Genes (Basel), 11(12), 1458. View the article
