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Ectodermal Dysplasia (Chesapeake Bay Retriever Type)

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Test Overview:

Test all breeding dogs for the PKP1 splice mutation. Avoid carrier-to-carrier matings to prevent affected offspring. Carriers may be bred to clear dogs with offspring tested for the mutation. Maintain genetic diversity while reducing disease frequency.

Category:

Dermatologic - Associated with the skin

Gene:

Plakophilin 1 (PKP1) on Chromosome 7

Variant Detected:

c.202+1 G>C in intron 1-2

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Olivry T, et al. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. (2012) PLoS One 7(2): e32072.

Associated Breed(s):

Chesapeake Bay Retriever , Mixed Breed,

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