OMIA 001508-9685 : Myotubular myopathy 1 in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 310400 (trait) , 300415 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: 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 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 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
1475 Maine Coon Myotubular myopathy 1 MTM1 missense Naturally occurring variant Felis_catus_9.0 X g.125938001C>T c.455C>T p.(A152V) XM_004000974.4; XP_004001023.1 2022 35962713

Reference


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 :, 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