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Ectodermal Dysplasia
Breed: Golden Retriever
Generic Phene Data
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General
Disease Name
Ectodermal Dysplasia
OMIA
1864
Gene Name
PKP1
Mutation
c.202+1G>C
Test Type
Genetic Disease/Disorder
Details
Ectodermal Displasia causes extremely thin and fragile skin. Puppies suffer from skin splitting and bleeding on the nose, footpads, ear time, lips and face even from gentle touch. If puppies survive for a longer period, even mild friction around the limbs causes damage and splitting to skin. Age of onset from birth. Most puppies do not survive, or are euthanised.
Details 2
... Clinical signs occurred immediately after birth with spontaneous sloughing of the nose and footpad epithelium and bleeding of the ear tips if traumatized. Within 48 hours of birth, the lips and facial superficial skin layers also sloughed when rubbed dry or licked by the mother... exhibited waxing and waning superficial skin sloughing with erosions and fissures at areas of friction (axillae, groin, caudal tarsi, footpads), concave ear pinnae and mucocutaneous junctions (nasal planum, philtrum, lips, periocular area) (Olivry et al, 2012)
Published
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.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Chesapeake Bay Retriever, Golden Retriever
HSP Test-Specific Data
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
PKP1
Mutation
c.202+1G>C
Application in the Breed
listed as having mutation in OMIA
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