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Adult Onset Deafness Border Collie (Linkage Association Test)

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Description:

This test is currently offered as 'research only' and results should not to be used for making key breeding decisions. This test is referred to as a Linkage Association Test – number of SNPs that are associated towards a ‘risk’ these are also known as marker tests so to clarify the exact gene that leads and causes EOAD is still to be discovered.  We are working to try and gather more phenotypic data on Border Collie/Collie populations with a key focus on Australian show and working lines. There are 5 associated SNPs, Orivet tests for the SNP that has been published to show the highest risk. Based on the association of this SNP having an 8 fold increased risk of deafness it is advisable if possible to avoid mating to produce a positive at risk offspring BUT this is low risk (8 x fold risk).  If you have a dog that tests as "positive/at risk' we recommend that a BAER test be carried out.

Test Overview:

Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3–5 years) than typically expected for ageing dogs (8–10 years).

Category:

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

Gene:

USP31

Variant Detected:

c.846+5 T>G

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Complex - Mode Unknown

Research Citation(s):

Yokoyama, 2019, PLoS Genet 8(9): e1002898
2014 Schmutz, S.M. : An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol 1:6, 2014. Pubmed reference: 26401323. DOI: 10.1186/2052-6687-1-6.
2012 Yokoyama, J.S., Lam, E.T., Ruhe, A.L., Erdman, C.A., Robertson, K.R., Webb, A.A., Williams, D.C., Chang, M.L., Hytönen, M.K., Lohi, H., Hamilton, S.P., Neff, M.W. : Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet 8:e1002898, 2012. Pubmed reference: 23028339. DOI: 10.1371/journal.pgen.1002898.

Associated Breed(s):

Australian Shepherd, Border Collie, Bordoodle, Collie Rough, Collie Smooth,

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