OMIA 001081-9685 : Muscular dystrophy, Duchenne type in Felis catus

In other species: dog , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 310200

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1994

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMD Duchenne muscular dystrophy Felis catus - no genomic information (-..-) DMD Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Muscular dystrophy, Duchenne type DMD deletion, gross (>20) A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene 1994 7881288
Domestic shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) 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

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.
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