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Mucopolysaccharidosis VII - Type II (German Shepherd/Belgian Shepherd Type)
Test Overview:
Clinical and laboratory findings included skeletal deformities, corneal cloudiness, cytoplasmic granules in the neutrophils and lymphocytes of blood and CSF and glycosaminoglycans in a urine sample (detected via a toluidine blue spot test). Enzyme activity and DNA analyses confirmed mucopolysaccharidosis type VII as a result of severe beta-glucuronidase deficiency.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
Glucuronidase beta (GUSB) on Chromosome 6
Variant Detected:
Base Substitution c.498G>A p.Arg166His
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Ray J, et al. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. (1998) Am J Vet Res 59;1092–1095.
Associated Breed(s):
Belgian Groenendael Shepherd, Belgian Lakenois Shepherd, Belgian Malinois Shepherd, Belgian Tervueren Shepherd , German Shepherd Dog, Mixed Breed,
