Erbliche Taubheit (DINGS1&2) – Dobermann
Hereditary deafness (DINGS1&2) - Dobermann
General description
Two genetic variants, known as DINGS1 and DINGS2, can 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. The deafness can be unilateral (DINGS1) or bilateral (DINGS2).
Breeds
Dobermann
Order details
| Test number | 8875 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | auditory |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MYO7A |
| Mutation | C-T |
| Literature | OMIA:002196-9615 |
Detailed description
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. \n\nAffected 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.
