Ichthyosis / congenital ichthyosis (SLC27A4-related) - Great Dane

What does this test examine?

This genetic test analyses the SLC27A4 c.1250G>A variant in Great Dane. The disorder is known as Ichthyosis Great Dane type / congenital ichthyosis, ichthyosis, congenital ichthyosis and an inherited cornification disorder. The name ichthyosis refers to dry, scaly skin that can resemble fish scales.

What does it mean for the dog?

SLC27A4 encodes a fatty-acid transport protein important for skin-barrier lipids. The c.1250G>A variant alters splicing and reduces normal protein function in the skin. A disrupted skin barrier can lead to scaling, dry or thickened skin, a dull coat, redness, itching, fissures or secondary skin infections. Severity differs between types and breeds: some forms are mainly chronic and inconvenient, while others cause serious skin disease in young puppies. Affected Great Dane puppies can show severe generalized hyperkeratosis with strongly wrinkled, thickened and scaling skin, especially around the eyes and nose.

Practical value of this test

• Breeders can identify carriers or dogs with a risk genotype before matings are planned.
• The result helps avoid matings that may produce puppies with two copies of a recessive ichthyosis variant, or helps keep dominant variants out of a breeding line.
• In young dogs with scaling, the test quickly clarifies whether the tested inherited form explains the skin problems.
• For owners, the result gives practical context for skin care, follow-up and breeding decisions.

The condition is inherited as an autosomal recessive trait. One copy makes a dog a carrier; two copies cause the severe Great Dane form of ichthyosis.