Deafness in Rhodesian Ridgeback

Deafness in Rhodesian Ridgebacks is caused by the c.1033_1044del mutation in the EPS8L2 gene and is referred to as early onset adult deafness (EOAD).

The hearing of affected dogs progressively deteriorates shortly after birth. However, hearing loss is not apparent until between 1 and 2 years of age, rarely earlier. Deafness is bilateral and is not associated with any other defects.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Kawakami, T., Raghavan, V., Ruhe, A.L., Jensen, M.K., Milano, A., Nelson, T.C., Boyko, A.R. : Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One 17:e0264365, 2022. Pubmed reference: 35385474