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Dystrophic Epidermolysis Bullosa (Golden Retriever) Overview

Dystrophic Epidermolysis Bullosa (Golden Retriever)
US$ 94.00 RRP
US$ 85.00 REGISTERED USER PRICE
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Category: Dermatologic (Associated with Skin)

Gene: COL7A1

Variant Detected: c.5716G>A

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. The disease is characterized by blisters and erosions in the oral and esophageal epithelia, together with milia, nails dystrophy and growth retardation. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears.

Research Citation(s): Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 Aug 1; 12(15):1897-905. [PubMed: 12874109] Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol. 2011 Oct; 131(10):2069-78. [PubMed: 21697889]
Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G. Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. J Invest Dermatol. 2000 Jul; 115(1):135-7. [PubMed: 10886525]


Associated Breed(s): Golden Retriever,  Goldendoodle,  Groodle,  Mixed Breed,