R541 Congenital Erythropoietic Protoporphyria (CEP)

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Breed:  Blonde d'Aquitaine, Limousin
Sample material:  Blood EDTA, Blood Heparin, Hair, Semen, Tissue

10

working days

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Congenital Erythropoietic Protoporphyria (CEP or BCEP), is a genetic disease that results in extreme photosensitivity, causing discomfort and even skin lesions upon exposure to sunlight. In cattle it is caused by a recessive mutation to the gene FECH. It occurs primarily in the Blonde d’Aquitaine and Limousin cattle.

Specifications

Chromosome: 24

Gene: FECH

Mode of Inheritance: Unknown

Also known as: BCEP, CEP

Organ: Sensory organs

Sub-organ: Multiple

Species:Cattle

Year published: 1998

Clinical Features

The main symptom of CEP is photosensitivity. Soon after being put to pasture and exposed to bright sunlight, affected cattle are likely to develop skin lesions with hair loss and crusting, as well as watery eyes. Additionally, some affected calves may display neurological symptoms such as seizures, even before exposure to sunlight.

References

Omia: 836

Pubmed: 9784594