X-linked hypohidrotic ectodermal dysplasia / XHED (EDA-related) - German Shepherd Dog

What does this test examine?

This genetic test detects the EDA variant c.910-1G>A that causes X-linked hypohidrotic ectodermal dysplasia in German Shepherd Dogs. The condition is also described as XHED, X-linked ectodermal dysplasia, anhidrotic or hypohidrotic ectodermal dysplasia, with abnormalities of skin, hair, teeth and sweat glands.

Affected dogs can show sparse or absent hair in specific areas, abnormal or missing teeth, dry or fragile skin and reduced sweat-gland development. Because EDA is located on the X chromosome, males carrying the variant are typically clinically affected, while females with one copy are important carriers.

Practical value of this test

• Identifies carriers in German Shepherd Dog lines before breeding combinations are chosen.
• Helps prevent male puppies affected with XHED from being produced in risk matings.
• Supports selection when dental, skin or coat abnormalities occur in a line.
• Gives breeders clear information for planning, family screening and communication with puppy buyers.

Inheritance and interpretation

XHED is inherited as an X-linked recessive disorder. A male with the altered variant on his only X chromosome develops the disorder. A female with one copy is a carrier and can pass the variant on; two altered copies in a female would represent an affected genotype.