Epidermolytic hyperkeratosis / ichthyosis / EHK (KRT10-related) - Norfolk Terrier

What does this test analyse?

This genetic test analyses the KRT10 variant c.1125+1G>T for Epidermolytic hyperkeratosis in Norfolk Terrier dogs. The condition is also described as EHK, epidermolytic ichthyosis, ichthyosis and KRT10-related cornification disorder.

What does EHK mean for the dog?

Epidermolytic hyperkeratosis is an inherited disorder in which the tested variant can cause a clear disease phenotype when a dog carries two copies. Typical signs include dark grey, scaly and fragile skin, especially where skin folds or rubs.

KRT10 encodes keratin 10. The c.1125+1G>T splice variant disrupts normal cornification and skin strength. The test is practical for Norfolk Terrier breeders because carriers can appear 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.