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EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
Stefan J Rietmann1,2, Noëlle Cochet-Faivre3,4, Helene Dropsy3
1Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
Genes
|July 27, 2024
Summary
Hypohidrotic ectodermal dysplasia (HED) in cats is caused by a genetic mutation in the ectodysplasin (EDA) gene. This study identifies the first feline EDA-related HED case, linking a specific gene variant to the condition.
Area of Science:
- Genetics
- Veterinary Medicine
- Developmental Biology
Background:
- Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder affecting ectodermal structures.
- Loss-of-function variants in the X-chromosomal ectodysplasin (EDA) gene cause HED in multiple species.
- HED is characterized by abnormal development of hair, teeth, and sweat glands.
Observation:
- A male cat presented with diffuse alopecia, absent undercoat, and dental abnormalities (missing and conical teeth).
- Whole-genome sequencing identified a hemizygous missense variant (c.1042G>A) in the feline X-chromosomal EDA gene.
- The variant, p.(Ala348Thr), is located in the TNF signaling domain of ectodysplasin.
Findings:
- The identified feline EDA variant (p.Ala348Thr) is homologous to a known pathogenic human HED variant (p.Ala349Thr).
- Genetic analysis confirmed the suspected clinical diagnosis of HED in the affected cat.
- This is the first documented case of EDA-related HED in domestic cats.
Implications:
- This finding expands the known allelic spectrum of EDA mutations causing HED across species.
- It provides a genetic basis for HED in cats, aiding in diagnosis and potential future research.
- Understanding feline HED can offer insights into ectodermal development and related disorders in other mammals.
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