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Mucopolysaccharidosis Type VII

Breed: Brazilian Terrier

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
GTPs
Antagene
Embark
EVG Diagnostics
Genomia s.r.o
Veterinary Genetics Laboratory
Wisdom Panel - Kinship
AnimaLabs

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
Synonyms/Related Terms
Sly Syndrome, Mucopolysaccharidosis, MPSVII
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
Inheritance
AR

HSP Test-Specific Data

Antagene

GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSVII
GTP Disease Synonym
Mucopolysaccharidosis Type VII
Gene Name
GUSB
Mutation
c.866C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Hytónen, 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 m
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
341
GTP Breed
Brazilian Terrier

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.866C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Hytónen, 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 m
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
341
GTP Breed
Brazilian Terrier

EVG Diagnostics

GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
GUSB
Mutation
c.866C>T

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
GUSB
Mutation
c.866C>T
Mutation Comment
g.740428G>A

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

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.866C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Hytónen, 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 m
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
341
GTP Breed
Brazilian Terrier

AnimaLabs

GTP
GTP Name
AnimaLabs
Breed
OMIA
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