OMIA:001508-9685 : Myotubular myopathy 1 in Felis catus (domestic cat) |
In other species: dog
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310400 (trait) , 300415 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2022
Cross-species summary: Also known as X-linked myotubular myopathy (XLMTM)
History: Kopke et al. (2022) reported the first case of myotubular myopathy in cats, and a likely causal variant.
Molecular basis: Kopke et al. (2022) reported that "Whole genome sequencing [of the single affected male Maine Coon cat] identified an underlying missense variant [omia.variant:1475] in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy."
Clinical features: Kopke et al. (2022): "A 7-month-old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long-term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post-mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a “ring-like” appearance. Given the cat's age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and “ring-like” changes consistent with either centronuclear or myotubular myopathy. "
Prevalence: Kopke et al. (2022): "Besides the 339 cats and the reference genome cats without the variant, the variant additionally was genotyped by direct Sanger sequencing and not identified in 11 unrelated Maine coon cats, 1 random bred cat, and 1 cat of a different breed."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MTM1 | myotubularin 1 | Felis catus | X | NC_058386.1 (122897910..122996163) | MTM1 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1475 | Maine Coon (Cat) | Myotubular myopathy 1 | MTM1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.122964931C>T | XM_023249466.2:c.455C>T | XP_023105234.1:p.(A152V) | 2022 | 35962713 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:001508-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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.
| 2024 | Boeykens, F., Abitbol, M., Anderson, H., Casselman, I., de Citres, C.D., Hayward, J.J., Häggström, J., Kittleson, M.D., Lepri, E., Ljungvall, I., Longeri, M., Lyons, L.A., Ohlsson, Å., Peelman, L., Smets, P., Vezzosi, T., van Steenbeek, F.G., Broeckx, B.J.G. : |
| Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci 11:1497817, 2024. Pubmed reference: 39703406. DOI: 10.3389/fvets.2024.1497817. | |
| 2022 | Kopke, M.A., Diane Shelton, G., Lyons, L.A., Wall, M.J., Pemberton, S., Gedye, K.R., Owen, R., Guo, L.T., Buckley, R.M., Valencia, J.A. : |
| X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat. J Vet Intern Med 36:1800-1805, 2022. Pubmed reference: 35962713. DOI: 10.1111/jvim.16509. |
Edit History
- Created by Frank Nicholas on 15 Aug 2022
- Changed by Frank Nicholas on 15 Aug 2022
- Changed by Imke Tammen2 on 28 Jun 2025