Hereditary Deafness (EOAD)

Affected pups of the breed Dobermann are deaf by 3 weeks of age and show signs of vestibular...lisää
Doberman Pinscher dogs suffering from congenital deafness and dysfunction of the vestibular system have been first described in 1992. A mutation in the PTPRQ gene now has been found to be associated with deafness and vestibular dysfunction in this breed. The disease is inherited in an autosomal recessive manner. Affected pups are deaf by 3 weeks of age and show signs of vestibular disease like head tilt, circling and ataxia. In the inner ear, progressive cochlear degeneration with a loss of auditory sensory cells has been described. Moreover, abnormal or absent otoconia could be found in the vestibular system of some affected dogs without sensory cell loss.
In the breed Rottweiler, a genetic variant of the LOXHD1 gene causes an early-onset hearing loss. At the moment, it is still unclear if the puppies are born with deafness or if they are born with hearing impairment which progresses to deafness until the age of a few weeks. The LOXHD1 gene is suspected to be involved in maintaining the function of the cochlear hair cells.
In the breed Beauceron, a genetic variant in the gene CDH23 causes congenital, non-syndromic deafness with bilateral hearing loss. Affected puppies showed a normal growth except for the deafness.
Rhodesian Ridgeback dogs suffer from an early onset adult deafness, a progressive form of hearing loss leading to deafness in the age of one to two years. This disease is caused by a deletion in the EPS8L2 gene.
Beauceron, Dobermann, Rhodesian Ridgeback, Rottweiler
autosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
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