Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
February 2012
in “
PLoS ONE
”
Studysummary In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
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The study reported a novel congenital acantholytic dermatosis in Chesapeake Bay retriever dogs, affecting nine puppies from four litters, linked to a mutation in the PKP1 gene. This condition, consistent with an autosomal recessive inheritance, caused skin fragility and partial hair loss due to deficient plakophilin-1 expression. Histopathology showed severe suprabasal acantholysis at birth, which lessened with age, and electron microscopy revealed abnormalities in desmosomes and keratin filaments. The findings aligned with ectodermal dysplasia-skin fragility syndrome, marking the first such case in animals, suggesting potential for gene therapy research.
