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Neuronal Ceroid Lipofuscinosis Australian Shepherd type (NCL6)
| Acronym: | NCL6 |
| Gene: | CLN6 |
| Mutation: | c.829T>C |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neuronal Ceroid Lipofuscinosis (NCL) is a genetic neurodegenerative disease characterized by an excessive accumulation of lipopygments in tissues. The accumulation in neurons and other cell types is usually caused by the lack of one of several enzymes necessary for the lipopygments normal breakdown due to mutation in genes that encode them. Several types of NCL have been identified in dogs so far and can lead to symptoms that include vision loss, behavior changes, cognitive and motor decline, seizures, and premature death. The type of NCL found in Australian Shepherd dogs is caused by a missense mutation in the CLN6 gene that encodes a protein whose function is still not entirely discovered. Research suggests that the CLN6 protein regulates the transportation of certain proteins and fats from the endoplasmic reticulum to lysosomes.
This juvenile onset neurological disease found in Australian Shepherd dogs (NCL6) is inherited as an autosomal recessive disease, meaning two copies of the mutated gene are required 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 carriers 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:
Katz, M. L., Farias, F. H., Sanders, D. N., Zeng, R., Khan, S., Johnson, G. S., O Brien, D. P. (2011). A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. Journal of biomedicine & biotechnology, 2011, 198042. https://doi.org/10.1155/2011/198042
O Brien, D. P., Katz, M. L. (2008). Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. Journal of veterinary internal medicine, 22(2), 472–475. https://doi.org/10.1111/j.1939-1676.2008.0079.x