Congenital Myasthenic Syndrome, CMS (Terrier type)

Gene: CHRNE

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutations:

Jack Russell Terrier type: Insertion, CHRNE gene; c.636_637 ins.C, p.(G212R fs STOP 274)

Heidelterrier type: Insertion, CHRNE gene; c.1436_1437 ins.G, p.(S479R fs STOP 14)

Medical system: Neurological, muscular

Breeds : American Staffordshire Terrier/Amstaff, Beagle, Boston Terrier, Fox Terrier, German Shepherd, Golden Retriever, Heideterrier, Russell Terrier, Shiba Inu, Treeing Walker Coonhound

References:

OMIA link: [0685-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Mignan T, Targett M, Lowrie M. (2020) Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med 34:1707-1717.  [pubmed/32668077]

Rinz CJ, Lennon VA, James F, et al. (2015) A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7.  [pubmed/26429099]