OMIA:001888-9823 : Muscular dystrophy, Becker type in Sus scrofa (pig)
Categories: Muscle phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
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 (OMIA:001081), while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy.
Species-specific description: This disorder was first reported (in a single pig) by Horiuchi et al. (2014).
Schwarz et al. (2021): “In Austria, routine meat inspection identified “gluteal muscles infiltrated by fat and muscle tissue obviously being replaced by fat in two different slaughter pigs. … The two muscle samples were investigated histopathologically and diagnosed with fatty muscular dystrophy. The results of routine histopathology were confirmed by dystrophin-specific immunohistochemistry. Sex of the two affected animals was determined retrospectively using a PCR-based protocol and resulted in one male and one female pig. A survey to determine the prevalence of fatty muscular disorders of pork revealed that this phenomenon gets frequently observed in Styria, but also occurs in Upper Austria and Lower Austria. Mostly gluteal and lumbal muscles were affected and approximately 20-40% of the affected muscles were replaced by fat.” A genetic cause was considered by the authors, as the disease showed similarity to Becker muscular dystrophy and the previously reported case in Japan (Horiuchi et al., 2013). Further research is required.
Molecular basis: Aihara et al. (2022): "Analysis of dystrophin mRNA showed a 62 base pair insertion between exons 26 and 27. The insertion was derived from intron 26. Based on these findings, we diagnosed the case as Becker muscular dystrophy-the first known muscular dystrophy case induced by pseudoexon insertion in animals."
Clinical features: Aihara et al. (2022) reported "a case of Becker muscular dystrophy in a 6-month-old, mixed-breed, castrated male pig detected with macroglossia at a meat inspection center. The pig presented a severely enlarged tongue extending outside its mouth. The tongue was firm and pale with discolored muscles. Histologically, there was severe fibrosis, fatty replacement, and myofiber necrosis, degeneration, and regeneration. Immunofluorescence showed focal and severely weak labeling for dystrophin at the sarcolemma of myocytes in the tongue."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DMD||dystrophin||Sus scrofa||X||NC_010461.5 (29650728..27028223)||DMD||Homologene, Ensembl , NCBI gene|
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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|
|1457||Becker muscular dystrophy||DMD||insertion, gross (>20)||Naturally occurring variant||Sscrofa11.1||X||Aihara et al. (2022): "Analysis of dystrophin mRNA showed a 62 base pair insertion between exons 26 and 27. The insertion was derived from intron 26."||2022||35220848|
Cite this entry
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.
|2023||Stirm, M., Shashikadze, B., Blutke, A., Kemter, E., Lange, A., Stöckl, J.B., Jaudas, F., Laane, L., Kurome, M., Keßler, B., Zakhartchenko, V., Bähr, A., Klymiuk, N., Nagashima, H., Walter, M.C., Wurst, W., Kupatt, C., Fröhlich, T., Wolf, E. :|
|Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52. Proc Natl Acad Sci U S A 120:e2301250120, 2023. Pubmed reference: 37428903 . DOI: 10.1073/pnas.2301250120.|
|2022||Aihara, N., Kuroki, S., Inamuro, R., Kamiya, Y., Shiga, T., Kikuchihara, Y., Ohmori, E., Noguchi, M., Kamiie, J. :|
|Macroglossia in a pig diagnosed as Becker muscular dystrophy due to dystrophin pseudoexon insertion derived from intron 26. Vet Pathol 59:455-458, 2022. Pubmed reference: 35220848 . DOI: 10.1177/03009858221079669.|
|2021||Gaina, G., Popa Gruianu, A. :|
|Muscular dystrophy: Experimental animal models and therapeutic approaches (Review). Exp Ther Med 21:610, 2021. Pubmed reference: 33936267 . DOI: 10.3892/etm.2021.10042.|
|Schwarz, L., Schöner, C., Brunthaler, R., Weissenböck, H., Bernreiter-Hofer, T., Wallner, B., Ladinig, A. :|
|Investigations on the occurrence of a muscular disorder in Austrian slaughter pigs. Porcine Health Manag 7:51, 2021. Pubmed reference: 34465383 . DOI: 10.1186/s40813-021-00230-1.|
|2014||Fortunato, M.J., Ball, C.E., Hollinger, K., Patel, N.B., Modi, J.N., Rajasekaran, V., Nonneman, D.J., Ross, J.W., Kennedy, E.J., Selsby, J.T., Beedle, A.M. :|
|Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue. PLoS One 9:e97567, 2014. Pubmed reference: 24824861 . DOI: 10.1371/journal.pone.0097567.|
|Hollinger, K., Yang, C.X., Montz, R.E., Nonneman, D., Ross, J.W., Selsby, J.T. :|
|Dystrophin insufficiency causes selective muscle histopathology and loss of dystrophin-glycoprotein complex assembly in pig skeletal muscle. FASEB J 28:1600-9, 2014. Pubmed reference: 24347611 . DOI: 10.1096/fj.13-241141.|
|Horiuchi, N., Aihara, N., Mizutani, H., Kousaka, S., Nagafuchi, T., Ochiai, M., Ochiai, K., Kobayashi, Y., Furuoka, H., Asai, T., Oishi, K. :|
|Becker muscular dystrophy-like myopathy regarded as so-called "fatty muscular dystrophy" in a pig: a case report and its diagnostic method. J Vet Med Sci 76:243-8, 2014. Pubmed reference: 24162004 . DOI: 10.1292/jvms.13-0336.|
- Created by Frank Nicholas on 06 Nov 2013
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- Changed by Frank Nicholas on 20 May 2022