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Bilateral Deafness and Vestibular Dysfunction (DVD, DINGS2) - Doberman Pinscher Type
| Acronym: | DVD, DINGS2 |
| Gene: | MYO7A |
| Mutation: | c.3719G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Bilateral Deafness And Vestibular Dysfunction (DVD, DINGS2) is a genetic congenital syndrome of hearing loss and inner ear dysfunction in humans and animals, including dogs. DVD is characterized by progressive hearing loss and disturbance in the balance system. Deafness is observed in various dog breeds with different clinical characteristics and different genetic architecture but this type of hearing loss disease with vestibular dysfunction is specific for Doberman pinscher dogs. The signs of the disease start to show early, at a few weeks of age, and they include exaggerated side-to-side head/neck excursions, body falling, and head tilt, but no other visual abnormalities are observed. The type of genetic hearing loss is a consequence of a point mutation within the MYO7A gene that is expressed in the sensory cells of the cochlea, vestibule, and retina and encodes myosin with important functions in sensory neuroepithelia that are important for hearing and balance.
This bilateral hearing loss and vestibular dysfunction in Doberman Pinscher dogs is inherited as an autosomal recessive trait requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify dogs with the specific mutation and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Webb, A. A., Ruhe, A. L., Neff, M. W. (2019). A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Canadian journal of veterinary research = Revue canadienne de recherche veterinaire, 83(2), 142–148.
Wilkes, M.K. and Palmer, A.C. (1992), Congenital deafness and vestibular deficit in the dobermann. Journal of Small Animal Practice, 33: 218-224. https://doi.org/10.1111/j.1748-5827.1992.tb01120.x