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Early Onset Adult Deafness (Rhodesian Ridgeback)

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Test Overview:

Early Onset Adult Deafness is an inherited disease resulting in progressive loss of hearing in affected dogs. Affected dogs can present with deafness that can be confirmed using a clinical Brainstem Auditory Evoked Response (BAER) test, as early as 4 months of age, but typically present between 1-2 years of age. This type of hearing loss is distinct among other types of deafness associated with loss of pigment or other etiologies. Affected dogs do not develop other additional abnormalities.

Category:

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

Gene:

EPS8L2

Variant Detected:

chr18:26126095-26126107: 13 bp deletion (del GTGCACTTCCTCT)

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:

Autosomal Recessive

Recommended Screening:

Genetic testing of the EPS8L2 gene will reliably determine if a dog is a genetic carrier of Early Onset Adult Deafness. Confirmation of deafness is usually confirmed via BAER test.

Research Citation(s):

awakami T, Raghavan V, Ruhe AL, Jensen MK, Milano A, Nelson TC, Boyko AR. Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One. 2022 Apr 6;17(4):e0264365. [PubMed: 35385474] Strain GM. The Genetics of Deafness in Domestic Animals. Front Vet Sci. 2015 Sep 8;2:29. doi: 10.3389/fvets.2015.00029. [PubMed: 26664958]

Associated Breed(s):

Rhodesian Ridgeback ,

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