Bilateral Deafness and Vestibular Dysfunction (MYO7A, DINGS2) – Doberman
Code: H889
Short description
Bilateral Deafness with Vestibular Dysfunction is a neurological disorder occurring in the Doberman Pinscher, which causes loss of hearing and difficulties with balancing and walking.
General information
Bilateral Deafness with Vestibular Dysfunction is a neurological disorder occurring in the Doberman Pinscher, which causes loss of hearing and difficulties with balancing and walking. In the Doberman breeding community, the disorder is colloquially known as DINGS2. It is caused by a recessive mutation to the gene MYO7A.
Specifications
| Breeds | |
|---|---|
| Gene | MYO7A |
| Chromosome | 21 |
| Mutation | c.3719G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | DINGS |
Clinical features
Affected puppies typically develop symptoms within the first few weeks of life. Signs include difficulty nursing, wobbling or tilting of the head, loud and inconsolable crying out of apparent discomfort/distress, signs of vestibular dysfunction such as an absent startle reflex, and an inability to stand or walk properly.
References
Pubmed ID: 31097876
Year published: 2019
Omia ID: 2148
Omia variant ID:
Turnaround information
- 15 working days