Neuronal Ceroid Lipofuscinosis 8 (Setter Type)
Affected Genes: CLN8
Inheritance: Autosomal Recessive
Variant(canFam6):
chr37:31639819: T>C
Breed: English Setter
Gordon Setter
General Information: Neuronal Ceroid Lipofuscinosis 8 (NCL8, Setter Type) is a genetic lysosomal storage disorder that affects dogs, leading to the accumulation of waste compounds in the nervous system due to a deficiency in a crucial enzyme. Affected dogs typically begin to show symptoms between 14 and 18 months of age, starting with mental dullness and progressive vision loss. These symptoms are soon followed by a lack of muscle coordination and an abnormally stiff gait. As the disease progresses, affected dogs experience seizures, which often lead to death or necessitate euthanasia by the age of 2 years. The rapid deterioration of neurological functions severely impacts the quality of life for dogs with this condition.
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 for the CLN8 gene is essential for identifying carriers and dogs affected by Neuronal Ceroid Lipofuscinosis 8 (Setter Type). This disease is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to manifest the condition. Carrier dogs, possessing one normal and one mutated gene, generally do not show symptoms but can pass the mutated gene to their offspring. Breeding two carriers poses a risk of producing affected puppies, with each pup having a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing for the CLN8 mutation allows breeders to make informed breeding decisions, helping to prevent the production of affected puppies and eradicate the mutation from breeding lines. This approach ensures the health and longevity of future generations and reduces the incidence of NCL8 in susceptible breeds, promoting the overall well-being of these dogs.
References:
Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 2005 327(2):541-547.
Koppang N. English setter model and juvenile ceroid-lipofuscinosis I n man. Am J Med Genet. 1992 42(4):599-604.
Koppang N. The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in humans. Am J Med Genet Suppl. 1988;5:117-125.