Juvenile onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Sensorineural Deafness is characterized by congenital to early-onset hearing loss in affected dogs. The loss of hearing results from the abnormal function of cells in the inner ear, called cochlear hair cells, which are necessary for normal auditory function. Hearing impairment is usually observed in affected dogs by a few weeks of age and progresses to complete deafness by a few months of age. The hearing loss affects both ears and is not reversible. In contrast to other species with this genetic variant, the associated disorder in the dog appears to be limited to hearing loss.
Hearing loss can be confirmed with a BAER (Brainstem Auditory Evoked Response) hearing test. Since the hearing loss is permanent, therapy will be limited to supportive care. Dogs with hearing impairment can be trained to respond to hand cues and light signaling. Owners should be made aware that deaf dogs can startle easily and should be approached within their line of sight or gently roused from sleep by a light touch on their bedding. When outdoors, affected dogs should be on a leash at all times or in a fenced yard to prevent injury from dangers they cannot hear.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Sensorineural Deafness (Discovered in the Rottweiler) variant can be safely bred with a clear dog with no copies of the Sensorineural Deafness (Discovered in the Rottweiler) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Furthermore, a dog with two copies of the Sensorineural Deafness (Discovered in the Rottweiler) variant can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this Sensorineural Deafness variant could develop due to a different genetic or clinical cause.
| Gene | LOXHD1 |
|---|---|
| Variant | G>C |
| Chromosome | 7 |
| Coordinate | 44,806,821 |
All coordinates reference CanFam3.1
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. Hum Genet, 140(11), 1611-1618. View the article
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