Neuronal Ceroid Lipofuscinosis 8 (Saluki Type) (Duplication)
Affected Genes: CLN8
Inheritance: Autosomal Recessive
Variant(canFam6):
chr37:31639666-31639667: insertion T
Breed: Saluki
General Information: Neuronal Ceroid Lipofuscinosis 8 (Saluki Type) (Duplication) is an inherited neurodegenerative disorder in dogs characterized by the accumulation of lipofuscin in the brain and other tissues. This condition results from a genetic duplication that disrupts normal cellular function, leading to progressive neurological decline. Dogs with two copies of the associated gene duplication are predisposed to NCL8, which typically manifests in young adulthood. Symptoms include progressive loss of coordination, vision problems, behavioral changes, seizures, and cognitive decline. As the disease progresses, it can lead to severe neurological impairment and significantly impact the dog’s quality of life. While not all dogs with the mutation will show symptoms immediately, early detection and supportive care can help manage the condition and maintain the dog’s comfort.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the specific gene associated with Neuronal Ceroid Lipofuscinosis 8 (Saluki Type) (Duplication) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the duplicated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the duplication, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Lingaas F Guttersrud O-A, Arnet E, and Espenes A. Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet. 2018 49(1):52-58.