EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

    June 2024 in “ Genes ”
    Stefan J. Rietmann, Noëlle Cochet-Faivre, Hélène Dropsy, Vidhya Jagannathan, Lucie Chevallier, Tosso Leeb
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    Studysummary This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats. Our plain-language summary of this paper — not a Tressless recommendation.
    Researchers identified a hemizygous missense variant in the EDA gene (c.1042G>A, p.Ala348Thr) in a male cat with X-linked hypohidrotic ectodermal dysplasia (XHED), presenting symptoms like diffuse truncal alopecia, absence of an undercoat, and abnormal dentition. This variant, located in the TNF signaling domain of ectodysplasin, mirrors a known pathogenic variant in humans. Whole-genome sequencing and comparison with 96 control cats confirmed the genetic cause. This first report of EDA-related XHED in cats expands the understanding of this genetic disorder across species.
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