Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa
Discussion
Clinical Comments:
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth and affected mucosal linings. Age of onset from birth. Considered rare.
Breed-specific Comments: Golden Retrievers and their crosses
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.
Genetics
Inheritance
AR
OMIA
000341
OMIA Variant
000038
OMIA URL
https://omia.org/OMIA000341/9615/
OMIN
226600
Gene
COL7A1
Variants
g.40538034G>A; c.5716G>A; p.(G1906S); c.202+1G>C
Variants Comments
collagen, type VII, alpha 1
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
- Updated