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Hereditary Deafness (EOAD) – Rottweiler Type
| Acronym: | EOAD |
| Gene: | LOXHD1 |
| Mutation: | c.5747G>C |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Hereditary Deafness is a genetic congenital syndrome of progressive hearing loss and inner ear dysfunction. Hearing loss is a common sensory deficit in both humans and dogs and it may have different clinical characteristics and different genetic architecture. However, this type of hearing impairment is specific to the Rottweiler dog breed. Affected dogs start to show signs of the disease within just a few weeks of age or the disease might be congenital and they are born deaf. They do not show any other consistent clinical features that are usually connected to hearing loss diseases such as lack of pigmentation or piebaldism. The hearing loss in Rottweilers is caused by a missense variant in LOXHD1, a gene that is known to be essential for cochlear hair cell function.
This nonsyndromic hearing impairment found in Rottweiler 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 specific mutations 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:
Hytönen, M. K., Niskanen, J. E., Arumilli, M., Brookhart-Knox, C. A., Donner, J., Lohi, H. (2021). Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Human genetics, 140(11), 1611–1618. https://doi.org/10.1007/s00439-021-02286-z
Coppens, A. G., Kiss, R., Heizmann, C. W., Deltenre, P., Poncelet, L. (2001). An original inner ear neuroepithelial degeneration in a deaf Rottweiler puppy. Hearing research, 161(1-2), 65–71. https://doi.org/10.1016/s0378-5955(01)00354-9