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Congenital Myasthenic Syndrome - CHRNE related
Breed: Australian Cobberdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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
Relevance Rating: All current evidence indicates that the test is not meaningful or recommended for these breeds
General
Disease Name
Congenital Myasthenic Syndrome - CHRNE related
OMIA
685
Gene Name
CHRNE
Mutation
c.633_634insC
Mutation 2
c.1436_1437insG
Mutation 3
c.622G>A
Test Type
Genetic Disease/Disorder
Key Comments
Incorrectly associated with Golden Retrievers; not the correct test
Details
Severe exercise-induced weakness. Age of onset from 4 weeks. Pups often sadly euthanized before 8 weeks of age.
Details 2
Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life... CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). (Rinz et al 2015)
Published
Rinz, C.J., Lennon, V.A., James, F., Thoreson, J.B., Tsai, K.L., Starr-Moss, A.N., Humphries, H.D., Guo, L.T., Palmer, A.C., Clark, L.A., Shelton, G.D. : A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7, 2015. Pubmed reference: 26429099. DOI: 10.1016/j.nmd.2015.09.005.
Published 2
Herder, V., Ciurkiewicz, M., Baumgärtner, W., Jagannathan, V., Leeb, T. : Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Anim Genet 48:625, 2017. Pubmed reference: 28508416. DOI: 10.1111/age.12558.
Published 3
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J He
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Jack Russell Terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Congenital Myasthenic Syndrome
Gene Name
CHAT
Mutation
c.622G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J He
Application in the Breed
Carriers may be bred to normal animals (N/cms x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cms x N/cms) nor of affected animals. Exercise intolerance (temporarily paralyzed) (4 months of age) - No increase in severity with age.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-27
GTP Breed
Australian Cobberdog
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Congenital Myasthenic Syndrome
Gene Name
CHAT
Mutation
c.622G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J He
Application in the Breed
Carriers may be bred to normal animals (N/cms x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cms x N/cms) nor of affected animals. Exercise intolerance (temporarily paralyzed) (4 months of age) - No increase in severity with age.
Inheritance
AR
FCI Number
-27
GTP Breed
Australian Cobberdog
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CHAT
Mutation
c.622G>A
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Key Comment