In the early 2000s, six cases of Blonde d'Aquitaine calves with coat defects and very early mortality were studied. Using current genetic tools, a mutation in the EGFR gene (Epidermal Growth Factor Receptor) was identified as the cause of this anomaly. A screening test is now available for livestock professionals to limit its spread.
This mutation in the EGFR gene also exists in human babies, leading to severe consequences. The research conducted by INRAE, in collaboration with the National Veterinary School of Toulouse (ENVT) and the National Observatory of Bovine Anomalies (ONAB), is therefore complementary to human genetics research. Genealogical studies traced the anomaly's diffusion in the breed back to a bull born in 1967.
Research revealed follicular disorganization due to the degradation of gene transcripts. The identification of this bovine model reinforces the value of translational health studies and could lead to innovative therapeutic approaches. The implemented genetic screening test will eventually allow for the eradication of this anomaly in the Blonde d'Aquitaine breed.
