Mucopolysaccharidosis I / MPS I / Hurler syndrome (IDUA-related) - Boston Terrier

What does this test examine?

This genetic test analyses the IDUA variant c.19_20ins8 in Boston Terriers. The disorder is also known as mucopolysaccharidosis type I, MPS I and Hurler syndrome. The variant disrupts alpha-L-iduronidase function, so glycosaminoglycans are not broken down properly and can accumulate in lysosomes.

What does this disorder mean?

Affected Boston Terriers can develop early signs of lysosomal storage disease, including corneal clouding, neurological abnormalities, developmental problems and a progressive disease course. Because this is a serious inherited metabolic disorder, identifying carriers is especially valuable before breeding decisions are made.

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