EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia - Anses - Agence nationale de sécurité sanitaire de l’alimentation, de l’environnement et du travail Access content directly
Journal Articles Genes Year : 2024

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

Abstract

Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic ectodermal dysplasia in humans, mice, dogs and cattle. We investigated a male cat exhibiting diffuse truncal alopecia with a completely absent undercoat. The cat lacked several teeth, and the remaining teeth had an abnormal conical shape. Whole-genome sequencing revealed a hemizygous missense variant in the EDA gene, XM_011291781.3:c.1042G>A or XP_011290083.1:p.(Ala348Thr). The predicted amino acid exchange is located in the C-terminal TNF signaling domain of the encoded ectodysplasin. The corresponding missense variant in the human EDA gene, p.Ala349Thr, has been reported as a recurring pathogenic variant in several human patients with X-linked hypohidrotic ectodermal dysplasia. The identified feline variant therefore represents the likely cause of the hypohidrotic ectodermal dysplasia in the investigated cat, and the genetic investigation confirmed the suspected clinical diagnosis. This is the first report of an EDA-related hypohidrotic ectodermal dysplasia in cats.
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Dates and versions

hal-04629155 , version 1 (28-06-2024)

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Stefan J Rietmann, Noëlle Cochet-Faivre, Helene Dropsy, Vidhya Jagannathan, Lucie Chevallier, et al.. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. Genes, 2024, ⟨10.3390/genes15070854⟩. ⟨hal-04629155⟩
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