Donate
Mucopolysaccharidosis Type VII
Breed: Poodles
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
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
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
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
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
172
GTP Breed
Poodles
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
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
This test is outsourced to:
Orivet
FCI Number
172
GTP Breed
Poodles
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
Certagen GmbH
GTP
GTP Name
Progressive Retinal Atropphy (BBS2-type)
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GUSB
Mutation
c.559G>A; c.866C>T
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
