Ichthyosis German Shepherd type (ASPRV1-related) - Dog

What does this test examine?

This genetic test analyses the ASPRV1 c.1052T>C variant in German Shepherd Dog. The disorder is known as Ichthyosis German Shepherd type / ASPRV1-related 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?

ASPRV1 encodes SASPase, a protease involved in filaggrin processing and skin-barrier function. The c.1052T>C variant changes a conserved amino acid and disrupts this process. 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. The described German Shepherd showed generalized grey scaling, hypotrichosis, focal alopecia, redness and comedones.

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 interpreted as autosomal dominant. One copy of the variant causes the tested ASPRV1-related ichthyosis.