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Dystrophic Epidermolysis Bullosa
Breed: Central Asia Shepherd Dog
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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
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
FCI Number
335
GTP Breed
Central Asia shepherd dog
VHL Genetics
GTP
GTP Name
VHL Genetics
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
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
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
FCI Number
335
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
CMSCH
GTP
GTP Name
CMSCH
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
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
COL7A1
Mutation
c.5716G>A
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