Neuronal Ceroid Lipofuscinosis 5 (NCL5)
Kodas: H721
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
General information
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 5 (NCL5 or CLN5), is caused by a recessive mutation to the gene CLN5. This variant is found in the Australian Cattle Dog and the Border Collie. A related variant is found in the Golden Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | CLN5 |
| Chromosome | 22 |
| Mutation | c.619C>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL5 |
Clinical features
Early visual loss leading to complete retinal blindness can be observed in puppies. In later stages of life a vegetative state can be reached followed by absence of brain activity.
References
Pubmed ID: 16033706
Year published: 2005
Omia ID: 1482
Omia variant ID:
Turnaround information
- 10 working days