Hereditary deafness (DINGS1&2)

LABOKLIN Service ID: 8875

Two genetic variants in the PTPRQ gene (known as DINGS1) and in the MYO7A gene (known as DINGS2) have been identified that cause congenital deafness and vestibular dysfunction in the Doberman breed.

Affected pups are deaf shortly after birth and show signs of vestibular disease like head tilt, circling and ataxia. Symptoms of the vestibular dysfunction can improve with age. Moreover, affected pups have no vestibulo-ocular reflex and exhibit post-rotational nystagmus. In the inner ear, progressive cochlear degeneration with a loss of auditory sensory cells has been described. The deafness caused by DINGS2 is bilateral, while DINGS1 can cause unilateral deafness.

Method	sequencing
Breed list	Dobermann
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab