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Ectodermal Dysplasia, X-Linked (Dachshund Type)

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Test Overview:

Genetic screening of breeding stock to identify carriers and affected animals. Avoid breeding carrier females to affected or carrier males. Breed carrier females only to genetically clear males. Use test results to guide selection for healthy puppies and maintain genetic diversity.

Category:

Dermatologic - Associated with the skin

Gene:

EDA

Variant Detected:

c.842delT on X chromosome, deletion causes frameshift mutation (p.Leu281HisfsTer22)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Genetic testing of the EDA gene will reliably determine if a dog is a genetic carrier of X-linked ectodermal dysplasia.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/30397018/ Vasiliadis D, Hewicker-Trautwein M, Klotz D, Fehr M, Ruseva S, Arndt J, Metzger J, Distl O. A de novo EDA-variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia. G3: Genes, Genomes, Genetics January 1, 2019 vol. 9 no. 1 95-104; https://doi.org/10.1534/g3.118.200814 [Not in PubMed]

Associated Breed(s):

Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Kaninchen Dachshund, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair,

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