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Polyneuropathy ARHGEF10 (Leonberger/Saint Bernard Type)

Polyneuropathy ARHGEF10 (Leonberger/Saint Bernard Type)

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Test Overview:

Polyneuropathy (Leonberger and Saint Bernard type) affects dogs and is an inherited neurologic disease. Dogs affected with this disease will most commonly present with signs of generalised neurologic disease including weakness, loss of muscle tone, muscle Atrophy, awkward high-stepping gait in the hind limbs, decreased reflexes, abnormal bark sounds and increased breathing sounds due to paralysis of the larynx before 3 years of age. Over time, the disease may progress to the point where affected dogs are unable to bear weight or walk. Although published reports indicate that this is an Autosomal Recessive condition in most dogs (two copies of the Mutation are required for a dog to be affected), some dogs with a single copy of the mutation (carriers) may also be at-risk of developing the disease.

Category:

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

Gene:

ARHGEF10

Variant Detected:

chr16:54349199-54349208: 10 bp deletion (del CACGGTGAGC)

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:

Muscle biopsy Genetic testing of the ARHGEF10 gene will reliably determine if a dog is a genetic carrier of polyneuropathy (Leonberger and Saint Bernard type).

Research Citation(s):

PLoS Genet. 2014 Oct 2;10(10):e1004635 Ekenstedt KJ, Becker D, Minor KM, Shelton GD, Patterson EE, Bley T, Oevermann A, Bilzer T, Leeb T, Drogemuller C, Mickelson JR. An ARHGEF10 deletion in highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs. PLoS Genet. 2014 Oct 2;10(10):e1004635. [PubMed: 25275565]

Associated Breed(s):

Leonberger, Saint Bernard ,

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