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Congenital Myasthenic Syndrome (Jack Russell Terrier Type)

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Test Overview:

Test all breeding dogs for the CHRNE mutation. Avoid mating two carriers to prevent affected litters. Breed carriers only to clear dogs. Do not breed affected dogs. Use genetic information combined with pedigree data to maintain genetic diversity while reducing disease risk.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Cholinergic receptor nicotinic epsilon subunit (CHRNE) on chromosome 5

Variant Detected:

c.636_637insC in exon 7

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CHRNE gene will reliably determine if a dog is a genetic carrier of congenital myasthenic syndrome (Jack Russell terrier type).

Research Citation(s):

Herder, V., Ciurkiewicz, M., Baumgärtner, W., Jagannathan, V., Leeb, T. (217) : 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. Rinz CJ, Lennon VA, James F, Thoreson JB, Tsai KL, Starr-Moss AN, Humphries HD, Guo LT, Palmer AC, Clark LA, Shelton GD. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord. 2015 Dec;25(12):921-7. [PubMed: 26429099]

Associated Breed(s):

Australian Terrier, Jack Russell Terrier, Mixed Breed, Parson Russell Terrier,

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