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Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type)

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Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CLN5 intracellular trafficking protein (CLN5) on Chromosome 22

Variant Detected:

Nucleotide Deletion c.934_935delAG p.E312Vfs*6

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gilliam D, et al. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. (2015) Mol Genet Metab 115(2-3);101-109.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Labradoodle Retrodoodle ,

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