Peer-reviewed veterinary case report
Dachshund puppies with hair and teeth loss from EDA gene mutation
By Hadji Rasouliha, S et al.·Published in Animal genetics·2018·Institute of Genetics·View original on PubMed →
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Original publication title: A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.
- Species:
- dog
Plain-English summary
A litter of Dachshund puppies was found to have a genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED), which causes issues like missing hair, teeth, and sweat glands. In this case, four male puppies showed signs of the disease, and genetic testing revealed a specific mutation in the EDA gene that likely caused their symptoms. This mutation was inherited from their mother. Unfortunately, XLHED can lead to significant health challenges for affected dogs, and while there is no cure, understanding the genetic cause can help owners manage the condition better.
People also search for: Dachshund genetic disorders · XLHED in dogs · puppy missing teeth and hair
Abstract
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disease characterized by hypoplasia or absence of hair, teeth and sweat glands. The EDA gene, located on the X chromosome, encodes the type II transmembrane protein ectodysplasin A. Variants in the EDA gene can lead to XLHED in humans, mice, cattle and dogs. In the present study, we investigated a litter of Dachshund puppies, of which four male puppies showed clinical signs of XLHED. We performed a candidate gene analysis in one affected puppy and several non-affected relatives. This analysis revealed a single base-pair deletion in the coding sequence of the EDA gene in the affected puppy (NM_001014770.2:c.842delT). The deletion is predicted to cause a frameshift, NP_001014770.1:p.(Leu281HisfsTer22), leading to a premature stop codon which truncates more than one quarter of the EDA protein. Sanger sequencing results confirmed that this variant was inherited from the dam. Based on knowledge about the functional impact of EDA variants in dogs and other species, c.842delT is a convincing candidate causative variant for the observed XLHED in the male puppies.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30276836/