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Mucopolysaccharidosis Type VII
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Mucopolysaccharidosis Type VII
OMIA
667
Gene Name
GUSB
Gene Name 2
CanFam3.1, Chr. 6
Mutation
c.866C>T
Mutation 2
c.559G>A
Mutation 3
g.741429C>T
Mutation 4
c.497G>A
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type VII is a very severe form of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include skeletal changes and dwarfism, severe growth retardation and spontaneous death. Age of onset from birth. Most puppies / young dogs are euthanised.
Details 2
Mucopolysaccharidosis Type VII is a very severe form of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include skeletal changes and dwarfism, severe growth retardation and spontaneous death. Age of onset from birth. Most puppies / young dogs are euthanised.
Published
Ray, J., Haskins, M.E., Ray, K. : Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs American Journal of Veterinary Research 59:1092-1095, 1998. Pubmed reference: 9736382.
Published 2
Ray, J., Scarpino, V., Laing, C., Haskins, M.E. : Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII Journal of Heredity 90:119-123, 1999. Pubmed reference: 9987917.
Published 3
Hytonen, M.K., Arumilli, M., Lappalainen, A.K., 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 7:e40281, 2012. Pubmed reference: 22815736. DOI: 10.1371/journal.pone.0040281.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
