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Background <p>Six cases of perinatal lethality associated with phenotypes consistent across cases, short and brush-haired appearance, alopecia and erythematous areas on the limbs and facial protuberances, excess skin all-over the body, have recently occurred in the "Blonde d'Aquitaine" cattle breed in South-Western France, suggesting the emergence of a recessive genetic anomaly.</p> Results <p>Genetic analysis identified a nonsense variant in the <i>epidermal growth factor receptor (EGFR)</i> gene, XP_002696936:p.Trp898Ter, as likely responsible for this anomaly and a bull born in 1967 as one ancestor that contributed to the spread of this allele in the breed. Functional studies on affected calves and cross-species comparisons of the phenotypes associated with such a variant were consistent with the results of the genetic study.</p> Conclusion <p>A recessive nonsense <i>EGFR</i> variant was identified as being responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed. It enabled the introduction of a screening test for this allele, which should lead to the progressive eradication of this genetic flaw.</p>

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An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月7日

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

摘要

Background

Six cases of perinatal lethality associated with phenotypes consistent across cases, short and brush-haired appearance, alopecia and erythematous areas on the limbs and facial protuberances, excess skin all-over the body, have recently occurred in the "Blonde d'Aquitaine" cattle breed in South-Western France, suggesting the emergence of a recessive genetic anomaly.

Results

Genetic analysis identified a nonsense variant in the epidermal growth factor receptor (EGFR) gene, XP_002696936:p.Trp898Ter, as likely responsible for this anomaly and a bull born in 1967 as one ancestor that contributed to the spread of this allele in the breed. Functional studies on affected calves and cross-species comparisons of the phenotypes associated with such a variant were consistent with the results of the genetic study.

Conclusion

A recessive nonsense EGFR variant was identified as being responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed. It enabled the introduction of a screening test for this allele, which should lead to the progressive eradication of this genetic flaw.