ArticleBMC veterinary research2026
An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in "Blonde d'Aquitaine" calves.
Article in BMC veterinary research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.Animal genetics · 2026Article
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Authors and funding
12 authors.
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Abstract
backgroundSix 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.
resultsGenetic 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.
conclusionA 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.
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