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Adult-Onset Deafness (EAOD) - Border Collie Type - 4 Associated Markers EAOD

Genetics and characteristics Adult-onset deafness is a genetic congenital syndrome of hearing loss and inner ear dysfunction in humans and animals, including dogs.

Gene USP31, HS3ST2, RBBP6
Mutation risk associated alleles
Inheritance Complex mode of inheritance
Sample CHS (Cheek Swab), WBE (Whole Blood EDTA)
Method Sanger sequencing

Genetics and characteristics

Adult-onset deafness is a genetic congenital syndrome of hearing loss and inner ear dysfunction in humans and animals, including dogs. Late-onset sensorineural deafness has been reported in three dog breeds, including Border Collie dogs. Deterioration of hearing typically begins in early adulthood with an age of onset at 3–5 years, rather than typically expected at 8–10 years of age. Hearing loss can have profound impacts on working ability and quality of life since it has an early onset, but does not have other serious consequences. Progressive deafness in Border Collie dogs is a consequence of mutations in two genes: the USP31 gene involved in mitigating tissue damage in the ear and the RBBP6 gene that plays an important role in ear development.

This syndromic hearing loss in Border Collies has a complex inheritance pattern, involving several genes. Dogs carrying more than one mutation have a high risk of developing the disease, dogs carrying only one have moderate risk and dogs carrying none of them have low risk. Early detection by genetic testing can identify dogs with the specific mutation and help breeders in selecting future mating pairs.

 

Results Reported As

 
Test Result
Interpretation of test result
Low risk
Dog does not have the mutated gene and has
low risk for developing the disease.
Moderate risk
Dog has one mutated gene and has moderate
risk for developing the disease.
High risk
Dog has two or more mutated genes and has
high risk for developing the disease.

 

 

 

 

 

 

 

 

 

 

References:

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. (2012). Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS genetics, 8(9), e1002898. https://doi.org/10.1371/journal.pgen.1002898

Strain G. (2015). The Genetics of Deafness in Domestic Animals. Frontiers in Veterinary Science, 2, 2297-1769, https://doi.org/10.3389/fvets.2015.00029

Schmutz S. M. (2014). An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine genetics and epidemiology, 1, 6. https://doi.org/10.1186/2052-6687-1-6