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

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.