Ectodermal Dysplasia

Affected Genes: PKP1
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Breed(s): Chesapeake Bay Retriever

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Common Symptoms

Ectodermal dysplasia is an inherited disease in dogs. Affected dogs are unable to produce a protein important for the tight adherence of skin cells to one another. Affected dogs show signs of disease at birth including fragile, pale skin that appears translucent on the ears, feet, nose, and mouth. This skin easily sloughs off when rubbed dry or licked by the dam. Affected dogs often die within hours or days of birth. Puppies that survive the neonatal period will continue to experience skin sloughing on the ears, footpads, sites of friction (e.g. armpits and groin), and at junctions of mucous membranes and skin, such as around the mouth, nose, and eyes. Affected dogs often have irregularly thickened footpads and small, malformed claws. By 3 months of age, affected dogs are often visibly smaller than littermates and have a sparse hair coat with areas of Alopecia. Puppies surviving the neonatal period are often euthanized at a young age due to poor quality of life.


Testing Tips

Genetic testing of the PKP1 gene will reliably determine whether a dog is a genetic Carrier of ectodermal dysplasia. Ectodermal dysplasia 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 PKP1 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. Dogs 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

  • Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML. Deficient plakophilin-1 expression due to mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One. 2012;7(2):e32072. [PubMed: 22384142]