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Neuronal ceroid lipofuscinosis 12 (NCL12) - Australian Cattle Dog Type
| Acronym: | NCL12 |
| Gene: | ATP13A2 |
| Mutation: | c.1118C>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neuronal ceroid lipofuscinosis (NCL) is a genetic disease belonging to a group of neurodegenerative disorders also known as the Batten disease. It has been reported in different dog breeds including Australian cattle dog. NCL is a result of an excessive accumulation of lipopygments in body’s tissue which is caused by the lack of one of several enzymes necessary for the lipopygments normal breakdown due to mutation in genes that encode them. This type of NCL is caused by the specific mutation in ATP13A2 gene that encodes ATPases which transports inorganic cations important in signaling pathways. The increased storage in dogs causes neuronal loss, cortical atrophy, and cerebellar and retinal degeneration resulting in seizures and progressive deterioration of cognition.
Neuronal ceroid lipofuscinosis in Australian cattle dog (NCL) is inherited as an autosomal recessive disease, meaning both healthy parents were heterozygotes that passed mutated recessive alleles to their offspring. 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:
Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27. PMID: 30956123; PMCID: PMC6548654.
Katz, M. L. (2004): A mutation in the CLN8 gene in English Setter dogs .with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 327(2):541-7.
Awano, T. (2006): A mutation in the cathepsin D gene (CTSD) in American Bullgenes with neuronal ceroid lipofuscinosis. Mol Genet Metab. 87(4):341-8.