Breeds Affected: Chesapeake Bay Retriever
Samples Accepted: Blood, Buccal Swabs
Disease Information: Pups affected with Ectodermal Dysplasia have extremely thin and fragile skin. The skin splits and sloughs off with even gentle touch like a mother’s licking, and pups are usually euthanized hours to days after birth.
Inheritance Information: Ectodermal Dysplasia (ED) is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/ed The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/ed carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ed/ed The dog is affected.
– Carriers may be bred to normal animals (N/ed x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/ed x N/ed) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (ed/ed) will not live long enough to reproduce.
Test Information: This mutation test identifies a single base pair change in intron 1 of the PKP1 gene.
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 the Online Mendelian Inheritance in Animals website.