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GM2 Gangliosidosis (Var 0)
Breed: Japanese Chin
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
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
GM2 Gangliosidosis (Var 0)
OMIA
1462
Gene Name
HEXB
Mutation
c.283delG
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Published
Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J :, 2012. Pubmed reference: 22766310. DOI: 10.1016/j.tvjl.2012.05.021.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retriever, Shiba-Inu, Toy Poodle
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis (Var 0)
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene
Application in the Breed
Carriers may be bred to normal animals (N/gm2g x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gm2g x N/gm2g ) nor of affected animals (gm2g/gm2g). Tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
206
GTP Breed
Japanese Chin
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
HEXB
Mutation
c.283delG
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis (Var 0)
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene
Application in the Breed
Carriers may be bred to normal animals (N/gm2g x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gm2g x N/gm2g ) nor of affected animals (gm2g/gm2g). Tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Inheritance
AR
FCI Number
206
GTP Breed
Japanese Chin
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