An Autosomal Recessive Nonsense Variant in the EGFR Gene Induces Perinatal Lethality in Blonde d'Aquitaine Calves

January 2026 in “ BMC Veterinary Research ”

Sandrine Floriot, Sébastien Fritz, Vincent Herry, Christian Beauvallet, M Boussaha, Giorgia Egidy, Amandine Duchesne, Marthe Vilotte, Marie-Christine Cadiergues, Didier Boichard, F. Schelcher, Jean-Luc Vilotte

EGFR epidermal growth factor receptor nonsense variant genetic anomaly skin abnormalities coat abnormalities

TLDR A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.

A study on "Blonde d'Aquitaine" calves identified a recessive nonsense variant in the EGFR gene causing perinatal lethality, characterized by skin and coat abnormalities. The study involved 6 affected calves, revealing that the variant leads to a premature stop codon, resulting in a lack of EGFR protein expression. This genetic anomaly, traced back to a bull from 1967, is not found in other cattle breeds and has limited dissemination within the breed. The findings suggest that the absence of EGFR protein is responsible for the lethality and associated defects, similar to EGFR knockout conditions in humans and mice. A screening test has been developed to help eradicate this genetic flaw from the breed.

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