OMIA 001888-9823 : Muscular dystrophy, Becker type in Sus scrofa

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 300376 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

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."

Associated gene:

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

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 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

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.
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.

Edit History


  • Created by Frank Nicholas on 06 Nov 2013
  • Changed by Frank Nicholas on 06 Nov 2013
  • Changed by Imke Tammen2 on 17 Aug 2021
  • Changed by Imke Tammen2 on 03 Sep 2021
  • Changed by Frank Nicholas on 20 May 2022