Ectodermal Dysplasia (ED Dog)
Ectodermal dysplasia (ED) is a skin disease in which affected puppies have extremely thin and fragile skin that peels off even when touched lightly. Puppies with this condition are usually euthanised immediately after birth.
The disease occurs in Chesapeake Bay Retrievers. It is inherited in an autosomal recessive manner.
Synonym: Skin fragility syndrome
- Extremely thin and fragile skin
- Skin lesions and blistering on contact
- Spontaneous sloughing of the nose and footpad epithelium
- Ectodermal dysplasia (ED) is a skin disease caused by a mutation in the coding gene for Plakophilin 1, a protein of the cytoskeleton.
- The lesions cause a severe reduction in the quality of life.
- Puppies with this disease are usually euthanised immediately after birth.
This mutation test detects a change in a single base pair (c.202+1G>C) in intron 1 of the PKP1 gene.
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both alleles of the gene are affected by the mutation (ed/ed). Dogs that have only one allele with the mutation (N/ed) are clinically healthy carriers.
N/N = genetically normal
The dog has no variant for ED and therefore cannot pass it on to offspring.
N/ed = a carrier
The dog is a clinically healthy carrier. 50% of the variation is passed on to the offspring, who are also carriers.
ed/ed = affected
The variation would be passed on 100% to the offspring, the animals usually do not reach breeding maturity.
- Carrier animals can be bred to normal animals (N/ed x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/ed x N/ed) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (ed/ed) should be excluded from breeding, but usually do not reach breeding maturity.
Olivry, T., Linder, K.E., Wang, P., Bizikova, P., Bernstein, J.A., Dunston, S.M., Paps, J.S., Casal, M.L.: Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One 7:e32072, 2012. Pubmed reference: 22384142. Doi: 10.1371/journal.pone.0032072.
Further information is available at: Online Mendelian Inheritance in Animals.