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Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type)
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 ,
