Congenital erythropoietic protoporphyria / CEP / BCEPP (FECH-related) - Cattle

CEP and protoporphyria in cattle

This DNA test examines the FECH variant c.1250G>T that causes congenital erythropoietic protoporphyria. The disorder is also known as CEP, BCEPP or congenital erythropoietic protoporphyria. Reduced ferrochelatase function causes protoporphyrin to accumulate in tissues that react strongly to sunlight.

What does CEP mean for an animal?

• Photosensitivity: affected animals develop skin problems on sun-exposed areas.
• Skin and mucosa: crusts, wounds, itching, hair loss and inflammation can occur.
• Practical impact: the disorder can strongly affect welfare, rearing and breeding value.

Practical value of this test

The result helps Blonde d’Aquitaine and Limousin breeders distinguish clear animals, carriers and genetically affected animals. Carriers are generally clinically normal but can pass the variant on. Identifying carriers helps avoid risk matings.