Dystrophic Epidermolysis Bullosa (RDEB) – Golden Retriever
Code: H497
Short description
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
General information
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia on humane grounds is likely to be desirable. This variant, known as Recessive Dystrophic Epidermolysis Bullosa (RDEB), is caused by a recessive mutation to the gene COL7A1. This specific variant occurs in the Golden Retriever. Related versions of RDEB are found in the Central Asian Shepherd and the Basset Hound.
Specifications
| Breeds | |
|---|---|
| Gene | COL7A1 |
| Chromosome | 20 |
| Mutation | c.5716G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | RDEB |
Clinical features
Multiple vesicles, bullae and ulcers in the oral and oropharyngeal mucosa, inner pinnae, dorsal plane of the nose, ventral abdomen, external genital and footpads. Symptoms are recognizable soon after birth. Histological examination shows separation at the dermal-epidermal junction with cleft formation.
References
Pubmed ID: 12874109
Year published: 2003
Omia ID: 341
Omia variant ID:
Turnaround information
- 15 working days