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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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