Mucopolysaccharidosis Type VII (Brazilian Terrier Type)

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:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Hytönen MK, et al. A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. (2012) PLoS ONE 7(7); e40281.

Associated Breed(s):

Brazilian Terrier,