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Dystrophic Epidermolysis Bullosa
Breed: Golden Retriever
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
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
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Mutation Comment
g.40538034G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
Gene Name
COL7A1
Mutation
c.5716G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Jo
Application in the Breed
Carriers may be bred to normal animals (N/debx N/N) . Offspring should be tested before breeding. No breeding two carriers (N/deb x N/deb) nor of affected animals (deb/deb). Blistering of the skin , retarded growth, mucosal lining affected
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
GTP Disease Synonym
Ectodermal Dysplasia (X-linked)
Gene Name
COL7A1
Mutation
c.5716G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
Gene Name
COL7A1
Mutation
c.5716G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Jo
Application in the Breed
Carriers may be bred to normal animals (N/debx N/N) . Offspring should be tested before breeding. No breeding two carriers (N/deb x N/deb) nor of affected animals (deb/deb). Blistering of the skin , retarded growth, mucosal lining affected
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
GTP Disease Synonym
Recessive dystrophic epidermolysis bullosa
Gene Name
COL7A1
Mutation
c.5716G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 Jo
Application in the Breed
Carriers may be bred to normal animals (N/debx N/N) . Offspring should be tested before breeding. No breeding two carriers (N/deb x N/deb) nor of affected animals (deb/deb). Blistering of the skin , retarded growth, mucosal lining affected
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
Gene Name
COL7A1
Mutation
c.5716G>A
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