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Dystrophic Epidermolysis Bullosa
Breed: Eurasian
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Dystrophic Epidermolysis Bullosa
OMIA
341
Gene Name
COL7A1
Mutation
c.5716G>A
Mutation 2
c.202+1G>C
Test Type
Genetic Disease/Disorder
Details
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth.
Details 2
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth. Considered rare.
Published
Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.
Published 2
Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J.P., Meneguzzi, G. : Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000. Pubmed reference: 10886525. DOI: 10.1046/j.1523-1747.2000.00031-5.x.
Published 3
Niskanen, J., Dillard, K., Arumilli, M., Salmela, E., Anttila, M., Lohi, H., Hytónen, M.K. : Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 12:e0177527, 2017.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retrievers
Breed-specific 1
Golden Retrievers
Breed-specific 1 Details
Research specific to Golden Retrievers: 2003 Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109. Research supports that the mutation as described in this paper is likely causal for risk of this condition.
HSP Test-Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Mutation Comment
c.202+1G>C
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