Mucopolysaccharidosis IIIB / MPS IIIB / Sanfilippo B (NAGLU-related) - Schipperke

What does this test examine?

This genetic test analyses the NAGLU variant c.2110_2111ins[A(40_70);2100_2110] in Schipperkes. The disorder is also known as mucopolysaccharidosis type IIIB, MPS IIIB, MPS3B and Sanfilippo syndrome type B. The variant disrupts alpha-N-acetylglucosaminidase function, so glycosaminoglycans are not broken down properly and can accumulate in lysosomes.

What does this disorder mean?

Affected Schipperkes typically develop neurological signs such as ataxia, tremor, a broad-based stance and gradually increasing coordination problems. The disorder can become apparent in young adulthood and progresses over time. DNA screening is especially valuable in this breed because healthy carriers cannot be recognised by appearance but can pass the variant on.

Inheritance and result

The trait is inherited in an autosomal recessive manner. This means the combination of two altered copies is clinically important, while carriers can look healthy and still matter genetically for breeding.

• Clear: no copies of the tested variant detected.
• Carrier: one normal and one altered copy; the dog can pass the variant on.
• Affected: two altered copies; this genotype causes the variant-specific disorder.

Practical value of this test

The result supports targeted breeding: clear dogs, carriers and genetically affected dogs are clearly separated. This helps breeders avoid risk matings, manage carriers responsibly within a line and strongly reduce the chance of affected puppies without unnecessarily losing valuable genetic diversity.

• supports breeding selection and mating planning
• makes hidden carriers visible
• helps reduce the risk of affected puppies in a targeted way