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Congenital Myasthenic Syndrome - CHRNE related
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
