OMIA:001081-9685 : Muscular dystrophy, Duchenne type in Felis catus (domestic cat) |
In other species: Rhesus monkey , dog , pig
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310200 (trait) , 300377 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1994
Cross-species summary: Variants in the DMD gene may give rise to phenotypes with different severity. True null alleles cause the more severe Duchenne muscular dystrophy, while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy (OMIA:001888).
Species-specific name: Hypertrophic feline muscular dystrophy (HFMD); feline X-linked muscular dystrophy (FXMD)
Species-specific symbol: HFMD
Molecular basis: By cloning a very likely comparative candidate gene (based on the homologous human disorder), and in what now (in 2011) seems like an heroic piece of research, Winand et al. (1994) used pre-sequencing technology to show that this disorder is due to a deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene. Gambino et al. (2014) reported a different large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" in a domestic shorthair cat. Beckers et al. (2022) report two male Maine coon siblings with DMD. Sequencing of DMD mRNA identified "a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C>T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree." Shelton et al. (2024) diagnosed a 1-year-old male domestic shorthair cat with a dystrophin-deficient form of X-linked muscular dystrophy. "A stop gain variant (c.4849C>T; p.Gln1617Ter) dystrophin was identified by genome sequencing."
Breeds:
Domestic Shorthair,
Maine Coon (Cat) (VBO_0100154).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| DMD | dystrophin | Felis catus | X | NC_058386.1 (29120869..26741260) | DMD | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 922 | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | X | A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene | 1994 | 7881288 | |||||||
| 923 | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | X | A large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" | 2014 | 24446404 | |||||||
| 1656 | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | nonsense (stop-gain) | Naturally occurring variant | F.catus_Fca126_mat1.0 | X | g.27949145C>T | c.4849C>T | p.(Q1617*) | XM_023249210.1 | 2024 | 38180235 | |||
| 1510 | Maine Coon (Cat) | Muscular dystrophy, Duchenne type | DMD | nonsense (stop-gain) | Naturally occurring variant | F.catus_Fca126_mat1.0 | X | g.28208148G>A | c.1180C>T | p.(R394*) | XM_045050794.1; XP_044906729.1 | 2022 | 36359052 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001081-9685: 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 | Reynolds, R.M., Marks, S.L., Guo, L.T., Shelton, G.D., Graham, K.J. : |
| Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis. JFMS Open Rep 10:20551169241254227, 2024. Pubmed reference: 39099732. DOI: 10.1177/20551169241254227. | |
| Shelton, G.D., Tucciarone, F., Guo, L.T., Coghill, L.M., Lyons, L.A. : | |
| Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat. J Vet Intern Med 38:135-144, 2024. Pubmed reference: 38180235. DOI: 10.1111/jvim.16971. | |
| 2022 | Beckers, E., Cornelis, I., Bhatti, S.F.M., Smets, P., Shelton, G.D., Guo, L.T., Peelman, L., Broeckx, B.J.G. : |
| A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine Coon cat. Animals (Basel) 12:2928, 2022. Pubmed reference: 36359052. DOI: 10.3390/ani12212928. | |
| 2015 | McGreevy, J.W., Hakim, C.H., McIntosh, M.A., Duan, D. : |
| Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy. Dis Model Mech 8:195-213, 2015. Pubmed reference: 25740330. DOI: 10.1242/dmm.018424. | |
| 2014 | Gambino, A.N., Mouser, P.J., Shelton, G.D., Winand, N.J. : |
| Emergent presentation of a cat with dystrophin-deficient muscular dystrophy. J Am Anim Hosp Assoc 50:130-5, 2014. Pubmed reference: 24446404. DOI: 10.5326/JAAHA-MS-5973. | |
| 2011 | Blunden, A.S., Gower, S. : |
| Hypertrophic feline muscular dystrophy: diagnostic overview and a novel immunohistochemical diagnostic method using formalin-fixed tissue. Vet Rec 168:510, 2011. Pubmed reference: 21558128. DOI: 10.1136/vr.d1119. | |
| Nakamura, A., Takeda, S. : | |
| Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications. J Biomed Biotechnol 2011:184393, 2011. Pubmed reference: 21274260. DOI: 10.1155/2011/184393. | |
| Smith, K. : | |
| Feline muscular dystrophy: parallels between cats and people. Vet Rec 168:507-8, 2011. Pubmed reference: 21571851. DOI: 10.1136/vr.d2940. | |
| 2009 | Willmann, R., Possekel, S., Dubach-Powell, J., Meier, T., Ruegg, MA. : |
| Mammalian animal models for Duchenne muscular dystrophy. Neuromuscul Disord 19:241-9, 2009. Pubmed reference: 19217290. DOI: 10.1016/j.nmd.2008.11.015. | |
| 2006 | Chetboul, V., Blot, S., Sampedrano, C.C., Thibaud, J.L., Granger, N., Tissier, R., Bruneval, P., Gaschen, F., Gouni, V., Nicolle, A.P., Pouchelon, J.L. : |
| Tissue Doppler imaging for detection of radial and longitudinal myocardial dysfunction in a family of cats affected by dystrophin-deficient hypertrophic muscular dystrophy. J Vet Intern Med 20:640-7, 2006. Pubmed reference: 16734102. | |
| 2005 | Shelton, GD., Engvall, E. : |
| Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 15:127-38, 2005. Pubmed reference: 15694134. DOI: 10.1016/j.nmd.2004.10.019. | |
| 2004 | Gaschen, F., Jaggy, A., Jones, B. : |
| Congenital diseases of feline muscle and neuromuscular junction. J Feline Med Surg 6:355-66, 2004. Pubmed reference: 15546767. DOI: 10.1016/j.jfms.2004.02.003. | |
| Howard, J., Jaggy, A., Busato, A., Gaschen, F. : | |
| Electrodiagnostic evaluation in feline hypertrophic muscular dystrophy. Vet J 168:87-92, 2004. Pubmed reference: 15158213. DOI: 10.1016/S1090-0233(03)00080-7. | |
| Shelton, G.D. : | |
| Muscular dystrophies: expanding our knowledge in companion animals. Vet J 168:6-8, 2004. Pubmed reference: 15158202. DOI: 10.1016/j.tvjl.2004.03.013. | |
| 2003 | Collins, C.A., Morgan, J.E. : |
| Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies. Int J Exp Pathol 84:165-72, 2003. Pubmed reference: 14632630. | |
| 2002 | Nguyen, F. : |
| [Animal models of Duchenne muscular dystrophy]. Rev Prat 52:937-40, 2002. Pubmed reference: 12063758. | |
| Shelton, G.D., Engvall, E. : | |
| Muscular dystrophies and other inherited myopathies. Vet Clin North Am Small Anim Pract 32:103-24, 2002. Pubmed reference: 11785725. | |
| 2001 | Gaschen, F., Burgunder, J.M. : |
| Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study Acta Neuropathologica 101:591-600, 2001. Pubmed reference: 11515788. | |
| Seiler, G., Welle, M., Busato, A., Lin, S., Gaschen, F.P. : | |
| Mast cell proliferation and alterations in bFGF amount and localization are involved in the response of muscle to dystrophin deficiency in hypertrophic feline dystrophy Neuromuscular Disorders 11:56-71, 2001. Pubmed reference: 11166167. | |
| 1999 | Gaschen, L., Lang, J., Lin, S., Ade-Damilano, M., Busato, A., Lombard, C.W., Gaschen, F.P. : |
| Cardiomyopathy in dystrophin-deficient hypertrophic feline muscular dystrophy Journal of Veterinary Internal Medicine 13:346-356, 1999. Pubmed reference: 10449227. | |
| 1998 | Gaschen, F., Gaschen, L., Seiler, G., Welle, M., Jaunin, V.B., Jmaa, D.G., Neiger-Aeschbacher, G., Ade-Damilano, M. : |
| Lethal peracute rhabdomyolysis associated with stress and general anesthesia in three dystrophin-deficient cats Veterinary Pathology 35:117-123, 1998. Pubmed reference: 9539365. | |
| Lin, S., Gaschen, F., Burgunder, J.M. : | |
| Utrophin is a regeneration-associated protein transiently present at the sarcolemma of regenerating skeletal muscle fibers in dystrophin-deficient hypertrophic feline muscular dystrophy Journal of Neuropathology And Experimental Neurology 57:780-790, 1998. Pubmed reference: 9720493. | |
| 1994 | Gaschen, F.P., Haugh, P.G., Swendrowski, M.A. : |
| Hypertrophic feline muscular dystrophy a unique clinical expression of dystrophin deficiency Feline Practice 22:23-26, 1994. | |
| Winand, N.J., Edwards, M., Pradhan, D., Berian, C.A., Cooper, B.J. : | |
| Deletion of the dystrophin muscle promoter in feline muscular dystrophy Neuromuscular Disorders 4:433-445, 1994. Pubmed reference: 7881288. | |
| 1993 | Kohn, B., Guscetti, F., Waxenberger, M., Augsburger, H. : |
| [Muscular dystrophy in a cat]. Tierarztl Prax 21:451-7, 1993. Pubmed reference: 8248906. | |
| 1992 | Berry, C.R., Gaschen, F.P., Ackerman, N. : |
| Radiographic and Ultrasonographic Features of Hypertrophic Feline Muscular Dystrophy in 2 Cats Veterinary Radiology & Ultrasound 33:357-364, 1992. | |
| Gaschen, F.P., Hoffman, E.P., Gorospe, J.R.M., Uhl, E.W., Senior, D.F., Cardinet, G.H., Pearce, L.K. : | |
| Dystrophin Deficiency Causes Lethal Muscle Hypertrophy in Cats Journal of the Neurological Sciences 110:149-159, 1992. Pubmed reference: 1506854. | |
| 1989 | Carpenter, J.L., Hoffman, E.P., Romanul, F.C.A., Kunkel, L.M., Rosales, R.K., Ma, N.S.F., Dasbach, J.J., Rae, J.F., Moore, F.M., Mcafee, M.B., Pearce, L.K. : |
| Feline Muscular Dystrophy with Dystrophin Deficiency American Journal of Pathology 135:909-919, 1989. Pubmed reference: 2683799. | |
| 1986 | Vos, JH., van der Linde-Sipman, JS., Goedegebuure, SA. : |
| Dystrophy-like myopathy in the cat. J Comp Pathol 96:335-41, 1986. Pubmed reference: 3722476. |
Edit History
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 31 Aug 2012
- Changed by Frank Nicholas on 15 May 2015
- Changed by Frank Nicholas on 04 Jun 2020
- Changed by Imke Tammen2 on 16 Nov 2022
- Changed by Imke Tammen2 on 12 Jun 2023
- Changed by Imke Tammen2 on 11 Jan 2024