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Mucopolysaccharidosis Type VII (Brazilian Terrier Type)

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Test Overview:

Mucopolysaccharidosis VII (Brazilian terrier type) affects dogs and is an inherited Lysosomal Storage Disorder. Affected dogs have insufficient activity of the Enzyme beta-glucuronidase, which is responsible for breaking down glycosaminoglycans (GAGs). GAGs are an important component of Connective Tissue. In affected dogs there is an accumulation of breakdown products in cells causing abnormal growth and function of various different organ systems. Clinical signs of MPS VII (Brazilian terrier type) are most commonly associated with accumulations in the bones and joints. Therefore, affected dogs typically present with symptoms of bone and joint disease, between 1 to 4 weeks of age. Affected puppies have disproportionally large heads with short muzzles, broad faces and domed skulls. Other skeletal deformities include joint laxity and deformed, crooked legs resulting in an inability to walk. Affected puppies are smaller than their normal littermates and exhibit a failure to thrive. Affected dogs die on their own or are euthanised within the first 5 weeks of life.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Glucuronidase beta (GUSB) on Chromosome 6

Variant Detected:

Base Substitution c.866C>T p.Pro289Leu

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the GUSB gene will reliably determine if a dog is a genetic carrier of Mucopolysaccharidosis Type VII (Brazilian Terrier Type).

Research Citation(s):

Hytonen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H. A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. PLoS One. 2012;7(7):e40281. [PubMed: 22815736]

Associated Breed(s):

Brazilian Terrier,

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