Van den Ende-Gupta syndrome / VDEGS (SCARF2-related) - Wire Fox Terrier

What does this test examine?

This genetic test detects the SCARF2 c.1873_1874del variant in the Wire Fox Terrier. This variant causes Van den Ende-Gupta syndrome, also known as VDEGS or a SCARF2-related skeletal developmental syndrome.

What does this condition mean?

VDEGS is an inherited skeletal developmental disorder. Affected puppies can show marked jaw and facial abnormalities, including a pronounced underbite caused by abnormal upper jaw development. Joint luxations, especially patellar and elbow luxation, bent limbs and other skeletal malformations may also occur.

Because the condition can be visible early in life and can strongly affect mobility, comfort and quality of life, genetic information is highly valuable for breeding decisions. The test identifies clear dogs, carriers and genetically affected dogs before matings are planned.

Inheritance and result

The trait is autosomal recessive. A dog with one copy is a carrier and can pass the variant on without being affected. A dog with two copies is genetically affected and develops the tested SCARF2-related VDEGS condition.

• N/N: the tested variant was not detected.
• N/del: one copy was detected; the dog is a carrier.
• del/del: two copies were detected; this genotype causes VDEGS within this test context.

Practical value of this test

For breeders, this test is directly useful for preventing affected puppies while managing valuable carriers responsibly. By breeding carriers only to clear dogs, lines can be preserved without creating carrier-to-carrier matings.

• Clearly separates clear, carrier and genetically affected dogs.
• Helps avoid carrier-to-carrier combinations.
• Supports targeted screening of relatives within the line.
• Provides transparent information about a serious inherited skeletal disorder.