Genetic Test
The COL7A1 (Collagen alpha-1(VII) chain) gene encodes a protein that forms anchoring fibrils, which connect and secure different layers of the skin to maintain proper skin structure and integrity.
Mutations in this gene are associated with dystrophic epidermolysis bullosa (DEB), a hereditary skin disorder characterized by fragile skin that blisters and tears easily.
This genetic test targets two specific COL7A1 mutations linked to dystrophic epidermolysis bullosa.
Disease Description
The skin is composed of three main layers, from the outermost to the innermost: the stratum corneum, the epidermis, and the dermis.
Epidermolysis bullosa (EB) is a rare hereditary disorder caused by mutations in genes responsible for producing proteins that form the epidermis and the epidermal-dermal junction.
This leads to skin and mucous membrane fragility, resulting in blister formation even after minor trauma, accompanied by pain and discomfort.
In severe cases, EB can affect the eyes, tongue, and esophagus, and may cause muscle atrophy and deformities of the paws and digits.
Dystrophic epidermolysis bullosa (DEB) is a subtype of EB characterized by blistering at the basement membrane zone, the deepest layer of the epidermis, often affecting large areas of the skin.
