Mucopolysaccharidosis VII / MPS VII / Sly syndrome (GUSB-related) - German Shepherd Dog

What does this test assess?

This genetic test analyses the GUSB c.497G>A variant in the German Shepherd Dog. The condition is known as mucopolysaccharidosis type VII, MPS VII, Sly syndrome and beta-glucuronidase deficiency.

The GUSB gene encodes beta-glucuronidase, a lysosomal enzyme involved in breaking down glycosaminoglycans. When a dog has two copies of the tested variant, this breakdown pathway can be severely disrupted and a progressive storage disorder develops.

What does this condition mean?

MPS VII can affect several body systems. Affected dogs may show developmental problems, skeletal and joint abnormalities, poor growth, movement problems, neurological signs, eye changes and general weakness. It is a condition with major relevance for welfare and breeding planning.

Inheritance and result

The trait is inherited as autosomal recessive. Carriers have one copy of the variant and can look healthy. Two copies cause the genetically affected result for this GUSB variant.

• GG means the dog does not carry the tested variant.
• GA means the dog is a carrier and can pass the variant to offspring.
• AA means the dog has two copies of the variant and is genetically affected for MPS VII caused by this variant.

Practical value of this test

This test is designed to identify a severe recessive disease variant in German Shepherd Dogs. The result can be used directly for breeding selection, risk management and clear communication with owners or buyers.

• Breeders can identify carriers before planning a mating.
• Carrier dogs can be used responsibly when paired with a partner clear for the tested variant.
• The test helps avoid combinations that can produce affected puppies.
• For relatives of a known carrier or affected dog, the analysis quickly clarifies genetic risk.