OMIA:001962-9685 : Neuronal ceroid lipofuscinosis, 7 in Felis catus
In other species: Japanese macaque , dog
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610951 (trait) , 611124 (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: 2019
Cross-species summary: CLN7
Molecular basis: "Whole‐genome sequencing of the affected cat with filtering of variants against a database of unaffected cats" enabled Guevar et al. (2019) to identify "Two homozygous private (unique to individual or families and therefore absent from the breed‐matched controlled population) protein‐changing variants in the major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7), were identified [c.19G>C; p.(Asp7His) and c.780delT; p.(Gln262Lysfs*33)]. The affected cat was homozygous for the alternative allele at both variants." The two variants were in complete disequilibrium in the 1 affected and 141 unaffected cats surveyed. The authors concluded that of the two variants, the frameshift variant was more likely to be pathogenic because it "most likely leads to a complete loss of function of the MFSD8 gene".
Clinical features: Guevar et al. (2019): "A 2‐year‐old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination. A neuroanatomical diagnosis of diffuse brain dysfunction was made. A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further supported the clinical suspicion."
Breed: Domestic Shorthair.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFSD8||major facilitator superfamily domain containing 8||Felis catus||B1||NC_058371.1 (96530858..96681414)||MFSD8||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|
|1148||Domestic Shorthair||Neuronal ceroid lipofuscinosis, 7||MFSD8||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.98935076del||c.780del||p.(Q262Kfs*33)||XM_019828986.2; XP_019684545.1; published as c.780delT||2020||31860737|
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.
|2020||Guevar, J., Hug, P., Giebels, F., Durand, A., Jagannathan, V., Leeb, T. :|
|A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. J Vet Intern Med 34:289-293, 2020. Pubmed reference: 31860737 . DOI: 10.1111/jvim.15663.|
|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 28 Jan 2020
- Changed by Frank Nicholas on 28 Jan 2020