Epidermolysis Bullosa, Simplex, PLEC-related
Breed: Ariege Pointing Dog
General
Disease Name
Epidermolysis Bullosa, Simplex, PLEC-related
OMIA
2080
Gene Name
PLEC
Mutation
c.3614G>A
Mutation 2
p.W1205*
Mutation 3
g.37461941G>A
Test Type
Genetic Disease/Disorder
Details
PLEC-related Epidermolysis bullosa, Simplex causes a number of symptoms including ulcers on lips, tongue, nose, paw pads, and stomach. Age of onset from birth, with reports of symptoms at 20 days. Puppies fail to thrive, and are often euthanized due to poor prognosis.
Details 2
PLEC-related Epidermolysis bullosa, Simplex causes a number of symptoms including ulcers on lips, tongue, nose, paw pads, and stomach. Age of onset from birth, with reports of symptoms at 20 days. Puppies fail to thrive, and are often euthanized due to poor prognosis.
Published
Mauldin, E.A., Wang, P., Olivry, T., Henthorn, P.S., Casal, M.L. : Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol :, 2016. Pubmed reference: 27878870. DOI: 10.1111/vde.12394.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Eurasier