Ectodermal Dysplasia (Chesapeake Bay Retriever Type)
Affected Genes: PKP1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr7:1647665: C>G
Breed: Chesapeake Bay Retriever
General Information: Ectodermal Dysplasia (ED) in Chesapeake Bay Retrievers is marked by a critical deficiency in skin cell adhesion, manifesting as extremely fragile, thin, and pale skin visible from birth. Puppies typically show translucent skin particularly at sensitive areas like the ears, nose, feet, and mouth. The delicate skin often peels off from minor contact, leading to severe damage and early neonatal death. Survivors continue to suffer from skin sloughing, abnormally thick footpads, malformed claws, and general underdevelopment compared to littermates. These ongoing issues usually compel euthanasia within a few months due to the significantly compromised quality of life.
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 Ectodermal Dysplasia (ED) in Chesapeake Bay Retrievers identifies mutations in the PKP1 gene. The disease follows an autosomal recessive inheritance pattern, requiring puppies to inherit two copies of the mutated gene—one from each parent—to manifest symptoms. Carriers of one copy of the mutation generally show no symptoms but can pass the gene to offspring. Breeding two carriers presents a 25% risk of producing affected puppies and a 50% chance of producing carriers. Comprehensive genetic screening is crucial to guide breeding decisions, helping to prevent the birth of affected puppies by avoiding breeding carriers together. Implementing such practices helps maintain the health of the breed and prevents the passing on of the gene. Normal test results for PKP1 do not exclude other genetic diseases with similar symptoms, underscoring the importance of comprehensive testing.
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.