Ectodermal Dysplasia (Chesapeake Bay Retriever type)

 

Gene: PKP1

Transmission: Autosomal, recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, PKP1 gene; c202+1 G>C, splicing error, intron1-2

Medical system: Skin

Breeds: [breeds]

Age of onset of symptoms: From birth

Ectodermal dysplasia is a severe skin disease that can affect the Chesapeake Bay Retriever.  It is caused by the production of a non-functional protein that is normally essential for the adhesion of skin cells to each other.  Symptoms are present at birth and include thinner coat, fragile and pale or even transparent skin on the paws, nose, mouth and ears. The skin undergoes desquamation, the foot pads get thicker and the claws get small and deformed. Most puppies die a few days or weeks after their birth, but some will survive for several months.  Around 3 months of age, desquamation worsens in areas where there is friction. There is a slowdown in growth and a loss of hair.  At this point in time, surviving animals are often euthanized for humanitarian reasons.

 

References:
OMIA link: [1864-9615]

Olivry T, Linder KE, Wang P, Bizikova P, et al. (2012) Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake bay retriever dogs.  Plos ONE 7(2):e32072. [pubmed/22384142]