Dystrophic epidermolysis bullosa / RDEB (COL7A1-related) - Central Asian Shepherd Dog

What does this test assess?

This genetic test analyzes the COL7A1 variant c.4579C>T for RDEB in the Central Asian Shepherd Dog. The condition is also known as recessive dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa, epidermolysis bullosa, butterfly disease, ectodermal dysplasia and skin fragility syndrome.

What does RDEB mean for the dog?

RDEB is a serious inherited disorder of the skin and mucous membranes. The COL7A1 gene encodes collagen VII, an important component of the connection between the epidermis and dermis. When this connection is too weak, minor friction can damage the skin.

Affected puppies can show signs from birth or early puppyhood. Typical signs include blisters, lesions and ulcers on feet, ears, muzzle and oral mucosa; the condition is severe and can have a major impact on welfare and quality of life.

Inheritance and result

The trait is inherited as an autosomal recessive condition. Dogs with two copies of the tested variant are expected to develop the disease. Carriers have one copy and are important to identify because two carriers can produce affected puppies.

• Clear: the tested variant was not detected.
• Carrier: one copy of the variant was detected; the dog can pass the variant on.
• Affected: two copies of the variant were detected; this genotype causes RDEB for this variant.

When is testing useful?

Testing is useful before combining carriers in breeding, for dogs from risk lines, for imported animals with unclear family status and for puppies or lines with a history of skin fragility. A clear DNA result helps breeders keep severe disease outcomes out of their breeding program in a targeted way.

Practical value of this test

This test is especially valuable for preventing painful and severe skin disease in puppies. Because carriers can look healthy, DNA testing allows breeders to make genetic risk visible before a mating is planned.

• Helps identify carriers reliably within the breeding population.
• Supports avoiding carrier-to-carrier matings.
• Reduces the risk of puppies with severe skin and mucosal disease.
• Provides clear genetic information for breeding advice, puppy information and follow-up of risk lines.