Hereditary Deafness (CDH23) – Beauceron
Code: H182
Short description
Deafness in dogs can have hereditary causes.
General information
Deafness in dogs can have hereditary causes. They can have an early or late onset. One of the known mutations leading to early-onset adult deafness (EAOD) occurs in the cadherin-related 23 (CDH23) gene. This gene encodes a protein involved in the structure and function of hair cells in the inner ear, which are critical for the conversion of sound waves into electrical signals that the brain can process as sound.
When there is an autosomal recessive mutation in the CDH23 gene, it can lead to structural and functional abnormalities in the ear’s hair cells, leading to deafness. This mutation is found in the Beauceron breed.
Specifications
| Breeds | Beauceron |
|---|---|
| Gene | CDH23 |
| Chromosome | 4 |
| Mutation | c.700C>T |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Dogs with a CDH23 gene mutation are often born congenitally deaf on both ears (bilateral), with the condition becoming apparent at a young age. It is a non-syndromic form of deafness, meaning it affects hearing only, without visible physical changes like coat or eye colour.
EAOD can be diagnosed through behavioral tests or brainstem auditory evoked response (BAER) examinations. The most noticeable symptom is a lack of response to any sound. Some deaf dogs may also experience balance issues or uncoordinated movement and the dog may show behavioural changes including increased anxiety or reliance on visual or tactile cues. They may be easily startled due to their inability to hear approaching people or objects.
References
Pubmed ID: 36308003
Year published: 2023
Omia ID: 2584
Omia variant ID:
Turnaround information
- 15 working days