OMIA:000626-9685 : Mannosidosis, beta in Felis catus (domestic cat) |
In other species: dog , taurine cattle , goat , springbok
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248510 (trait) , 609489 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Katz et al. (2023): "Whole genome sequence analysis [of a single affected cat] identified a homozygous missense variant c.2506G>A in MANBA that predicts a p.Gly836Arg alteration in the encoded lysosomal enzyme β -mannosidase. This variant was not present in the whole genome or whole exome sequences of any of the 424 cats represented in the 99 Lives Cat Genome dataset. ... The MANBA variant in the proband was associated with a complete absence of detectable β–mannosidase enzyme activity in the cerebellar cortex and cerebral cortex ... . "
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Katz et al. (2023): "A 6-month-old spayed female cat of unknown ancestry ... exhibited apparent retinal degeneration based on a fundus appearance suggestive of chorioretinitis. Muscle tone was normal and symmetric. Upon neurological examination the cat was found to have dull mentation, a tetraparetic gait, and delayed conscious proprioception in all four limbs ... . Due to the progression of disease signs, the cat was humanely euthanized at approximately 10.5 months of age."
Pathology: Katz et al. (2023): "Postmortem examination of brain and retinal tissues revealed massive accumulations of vacuolar inclusions in most cells, similar to those reported in animals of other species with hereditary β -mannosidosis. ... In addition to the vacuolar inclusions, some cells in the brain of the affected cat contained inclusions that exhibited lipofuscin-like autofluorescence."
Breed:
Domestic Shorthair.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MANBA | mannosidase, beta A, lysosomal | Felis catus | B1 | NC_058371.1 (119286518..119399723) | MANBA | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1636 | Domestic Shorthair | Mannosidosis, beta | MANBA | missense | Naturally occurring variant | Felis_catus_9.0 | B1 | g.121800342G>A | c.2506G>A | p.(G836R) | ENSFCAT00000007560, variant was reported in a single affected cat | 2023 | 37913889 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000626-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | L Katz, M., Cook, J., H Vite, C., S Campbell, R., M Coghill, L., A Lyons, L. : |
| Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA. Gene :147941, 2023. Pubmed reference: 37913889. DOI: 10.1016/j.gene.2023.147941. |
Edit History
- Created by Imke Tammen2 on 04 Oct 2023
- Changed by Imke Tammen2 on 03 Nov 2023