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Mucopolysaccharidosis Type VII
Breed: German Shepherd Dog/ Double coat
Generic Phene Data
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSVII
GTP Disease Synonym
Mucopolysaccharidosis Type VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 referenc
Application in the Breed
Carriers may be bred to normal animals (N/mps7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/mps7 x N/mps7) nor of affected animals (mps7/mps7). Skeletal changes and dwarfism, severe growth retardation and spontaneous death (symptoms after birth)
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
GUSB
Mutation
c.497G>A
Mutation Comment
g.741429C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSVII
GTP Disease Synonym
Mucopolysaccharidosis Type VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 referenc
Application in the Breed
Carriers may be bred to normal animals (N/mps7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/mps7 x N/mps7) nor of affected animals (mps7/mps7). Skeletal changes and dwarfism, severe growth retardation and spontaneous death (symptoms after birth)
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSVII
Gene Name
GUSB
Mutation
c.866C>T
Nature of test
mutation test
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSVII
GTP Disease Synonym
Mucopolysaccharidosis Type VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 referenc
Application in the Breed
Carriers may be bred to normal animals (N/mps7 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/mps7 x N/mps7) nor of affected animals (mps7/mps7). Skeletal changes and dwarfism, severe growth retardation and spontaneous death (symptoms after birth)
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
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