Epidermolysis Bullosa Simplex / EBS (PLEC-related) - Eurasier

What does this test analyse?

This genetic test analyses the PLEC variant c.3947G>A for Epidermolysis Bullosa Simplex in Eurasier dogs. The condition is also described as EBS, epidermolysis bullosa, ectodermal dysplasia and skin fragility syndrome.

What does EBS mean for the dog?

Epidermolysis Bullosa Simplex is an inherited disorder in which the tested variant can cause a clear disease phenotype when a dog carries two copies. Typical signs include extremely fragile skin, blisters, ulcers on lips, tongue, nose, feet and abdomen, hair loss, low body weight and poor quality of life in puppies.

PLEC encodes plectin, a structural protein that helps anchor skin layers. The c.3947G>A stop-gain variant disrupts this structure. The test is important for Eurasier breeders because carriers can be healthy but can produce affected puppies together.

Practical value of this test

• Gives breeders clear information about clear, carrier and genetically affected dogs before breeding decisions are made.
• Helps avoid carrier-by-carrier matings and thereby prevent affected puppies.
• Supports targeted selection without automatically removing healthy carriers from valuable lines.
• Makes the result useful for litter planning, purchase decisions and communication with owners or veterinarians.
• When compatible clinical signs are present, the test can provide a concrete genetic explanation for this specific condition.

Inheritance and result

The trait is inherited as autosomal recessive. A dog with two normal alleles is clear. A dog with one copy is a carrier and can pass the variant on. A dog with two copies of the variant is genetically affected for this tested form.