The mutation can cause deafness in affected puppies by the age of three weeks. Affected puppied exhibited symptoms of vestibular disease which include head tilt, circling and ataxia. Pathological findings in the inner ear included a progressive neuroepithelial type of cochlear degeneration characterized by a loss of the auditory sensory cells. Findings in the vestibular system included abnormal or absent otoconia in some of the affected dogs without sensory cell loss.
An inherited syndrome affecting the Doberman breed causes hearing loss and vestibular dysfunction. The mode of inheritance is suspected to be autosomal recessive. Symptoms of the disease have been associated with a mutation in the PTPRQ gene.
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. .