Hypotrichosis with short life expectancy (FOXN1-related) - Cat

Hypotrichosis with thymic aplasia in Birman cats

This genetic test examines the FOXN1 variant c.1030_1033delCTGT. The condition is described as hypotrichosis with short life expectancy, congenital or hereditary hypotrichosis and hypotrichosis with thymic aplasia. In cats, it is a severe inherited disorder in which abnormal hair development occurs together with an underdeveloped or absent thymus.

Affected kittens may be born hairless or develop only a very sparse, short and fragile coat. The skin may look wrinkled and greasy. Because thymic aplasia severely weakens immune defence, respiratory, digestive and skin infections can quickly become serious. Life expectancy is therefore strongly reduced.

What is tested?

• The gene: FOXN1.
• The variant: c.1030_1033delCTGT.
• The relevant breed: Birman.
• The inheritance pattern: autosomal recessive.

Practical value of this test

The result shows whether a cat is clear, carrier or affected for this FOXN1 variant. This is highly valuable in breeding, because healthy carriers can pass the variant on unnoticed. By identifying carriers, breeders can avoid matings that would produce affected kittens.