Test Detail

Hereditary deafness of the Rhodesian Ridgeback

Neurological · Dog

Early-onset adult sensorineural deafness (EOAD) described in the Rhodesian Ridgeback. Unlike congenital pigment-associated deafness, it affects dogs with full pigmentation and presents progressively and bilaterally, usually between 6 and 24 months. It is a genetic disease caused by a deletion in EPS8L2 that produces irreversible hearing loss; the DNA test identifies carriers and allows breeding to be planned. It is complementary to, not a substitute for, clinical examination and hearing assessment.
Inheritance patternAutosomal recessive (OMIA:002550-9615).
Gene / MutationEPS8L2 c.1033_1044del p.(V345_L348del), in-frame 12 bp deletion (g.25868739_25868750del) (OMIA:002550-9615).
PenetranceThe variant is recessive; homozygotes develop progressive early adult-onset deafness and heterozygotes are asymptomatic carriers. The exact proportion of homozygotes that reach profound deafness is not well defined (limited data).
Codeafsu
Turnaround time10 days
Price52,60 €

Incidence

Applicable breed: Rhodesian Ridgeback. Carrier frequencies not well quantified in the literature (limited data).

Breeder management

- Test Rhodesian Ridgeback breeding dogs before mating.
- Do not mate two carriers: on average, 25% of the litter would be homozygous and could develop deafness.
- A carrier may be mated to a clear dog; test the offspring intended for breeding.
- A puppy with normal hearing in the first months does not rule out later development: do not use the puppy test as the sole criterion.
- Communicate the status to buyers of carrier animals intended for breeding.

Specialist notes

Deafness is postnatal and progressive, so assessment in the puppy may be normal. Differential diagnosis with congenital pigment-associated deafness, otitis and acquired causes; confirmation combines auditory evoked potentials (BAER) with the genetic test. There is no treatment and adaptation relies on environmental management.

References

1. Kawakami T, Raghavan V, Ruhe AL, Jensen MK, Milano A, Nelson TC, Boyko AR. 2022. Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene (PLoS One) (PMID 35385474).
2. OMIA:002550-9615 (Deafness, EPS8L2-related, Canis lupus familiaris).

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