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Ectodermal Dysplasia (Chesapeake Bay Retriever Type)

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Test Overview:

Affected dogs are unable to produce a protein important for the tight adherence of skin cells to one another. Affected dogs show signs of disease at birth including fragile, pale skin that appears translucent on the ears, feet, nose, and mouth.

Category:

Dermatologic - Associated with the skin

Gene:

Plakophilin 1 (PKP1) on Chromosome 7

Variant Detected:

c.205+1 G>C Splice site and frameshift mutation

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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