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Early Onset Adult Deafness (Rhodesian Ridgeback)
Test Overview:
An early onset adult deafness which results in the progressing hearing loss in the breed. Deafness is usually seen at around 2 years of age. Confirmation of deafness is usually confirmed via BAER test.
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:
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
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 ,
