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):