Spondylocostal dysostosis / comma defect / SCD (HES7-related) - Schnauzer / Miniature Schnauzer

What does this test examine?

This genetic test analyses the HES7 variant c.126delG in Schnauzers and Miniature Schnauzers. The condition is known as spondylocostal dysostosis, SCD, comma defect and autosomal recessive lethal rib and vertebral malformation.

What does spondylocostal dysostosis mean?

Spondylocostal dysostosis is a severe developmental disorder of the vertebrae and ribs. Affected puppies have a markedly shortened body, abnormal ribs and vertebrae and a comma-like body shape caused by a relatively small hindquarter. The disorder is lethal: affected puppies are stillborn or die shortly after birth.

Inheritance and result

The trait is autosomal recessive and lethal when a puppy inherits two copies of the tested variant. Clear dogs do not carry the variant, carriers have one copy and are usually healthy, but can pass the variant to offspring.

Practical value of this test

• Breeders can identify carriers and avoid carrier-to-carrier matings.
• The test helps greatly reduce the risk of stillborn puppies or puppies dying shortly after birth.
• The result supports responsible line management in Schnauzer and Miniature Schnauzer breeding.