Early Onset Adult Deafness

The genetic disease that is characterised by hearing loss early in life, in which affected individuals lose their sense of hearing within 1-2 years after birth. The inheritance is recessive, the affected individual is the offspring of a sire and a dam who are both carriers of the disease. Carriers do not suffer from hearing impairment or deafness.

Initially, the test could have been ordered from an American laboratory within the ProjectDog project. Unfortunately, the laboratory has stopped accepting samples for testing for this disease.

However, the mutation has been newly described and it is possible to perform carrier screening in Rhodesian Ridgebacks:

Early onset of adult deafness in the Rhodesian Ridgeback is associated with in-frame deletion in the EPS8L2 gene.