OMIA:001443-9685 : Neuronal ceroid lipofuscinosis, 6 in Felis catus
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601780 (trait) , 606725 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
History: The first report of this disorder in cats was by Katz et al. (2020).
Molecular basis: Katz et al. (2020): "Comparison of the [whole-genome] sequence data [of the affected cat] to whole exome sequence data from 39 unaffected cats and whole genome sequence data from an additional 195 unaffected cats revealed a homozygous variant in CLN6 that was unique to the affected cat. This variant was predicted to cause a stop gain in the transcript due to a guanine to adenine transition (ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A)"
Clinical features: Katz et al. (2020): "A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refractory to treatment with phenobarbital. Magnetic resonance imaging revealed diffuse global brain atrophy."
Pathology: Katz et al. (2020): "Microscopic examination of the cerebellum, cerebral cortex and brainstem revealed pronounced intracellular accumulations of autofluorescent storage material and inflammation in all 3 brain regions. Ultrastructural examination of the storage material indicated that it consisted almost completely of tightly-packed membrane-like material. The clinical signs and neuropathology strongly suggested that the cat suffered from a form of neuronal ceroid lipofuscinosis (NCL)."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLN6||ceroid-lipofuscinosis, neuronal 6, late infantile, variant||Felis catus||B3||NC_058373.1 (37173741..37207743)||CLN6||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1213||Domestic medium-haired||Neuronal ceroid lipofuscinosis, 6||CLN6||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B3||g.39334330G>A||c.668G>A||p.(W223*)||ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020)||2020||32518081|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770 . DOI: 10.1038/s41598-021-86200-7.|
|2020||Katz, M.L., Buckley, R.M., Biegen, V., O'Brien, D.P., Johnson, G.C., Warren, W.C., Lyons, L.A. :|
|Neuronal ceroid lipofuscinosis in a domestic cat associated with a DNA sequence variant that creates a premature stop codon in CLN6. G3 (Bethesda) 10:2741-51, 2020. Pubmed reference: 32518081 . DOI: 10.1534/g3.120.401407.|
|Lyons, L.A. :|
|Precision medicine in cats-The right biomedical model may not be the mouse! PLoS Genet 16:e1009177, 2020. Pubmed reference: 33290388 . DOI: 10.1371/journal.pgen.1009177.|
- Created by Frank Nicholas on 11 Jun 2020
- Changed by Frank Nicholas on 11 Jun 2020
- Changed by Imke Tammen2 on 17 Jun 2021
- Changed by Imke Tammen2 on 07 Sep 2021