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

In other species: dog , domestic cat

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300376 (trait) , 300377 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

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 name: dystrophinopathy, dystrophin insufficiency

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. See also OMIA:001685-9823 : Stress syndrome, DMD-related in Sus scrofa (pig)

Molecular basis: Nonneman (2012) report a dystrophin variant (OMIAvariantID:179) causing a stress syndrome in pigs (see OMIA:001685-9823 : Stress syndrome, DMD-related in Sus scrofa (pig)). Hollinger et al. (2014) investigated the skeletal muscle phenotype in pigs with this variant and classified these pigs as "representative of a Becker phenotype". 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." Kamiya et al. (2003) "examined the lesions and the distribution of dystrophin expression in 25 pigs with dystrophinopathy. In addition, complementary deoxyribonucleic acid (cDNA) sequencing and western blotting were performed in 6 of the 25 cases ... . The sequence analysis of the dystrophin cDNA revealed the presence of 14 missense mutations and 3 types of shortened transcripts with exon skipping." 5 of the 14 missense mutations (based on SIFT and PolyPhen-2 scores) and 3 types of shortened transcripts generated by the skipping of exons were considered by the authors to be associated with the pathogenesis: c.1773A>G p.(Glu527Gly); c.1851T>C p.(Ile553Thr); c.6050C>T p.(Arg1953Trp) (previously reported OMIAvariantID:179); c.7529T>C p.(Ser2446Pro); c.11118G>A p.(Ser3642Asn); c.4834_5013del; c.8185_8904del and c.[10191_10229del,10362_10520del] (cDNA coordinates based on transcript NM_001012408.1.). However, three of the six pigs presented with multiple suspected pathogenic variants. The authors concluded that the "examination of the effects of each mutation on motor function and meat quality, respectively, will require the accumulation of additional cases."

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 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
179 Stress syndrome DMD missense Naturally occurring variant Sscrofa11.1 X g.28309227G>A c.5872C>T p.(R1958W) Ensembl VEP was used to identify cDNA position in transcript ENSSSCT00000089893.1, SIFT score 0.01 rs196952080 2012 22691118

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001888-9823: 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.

2023 Kamiya, Y., Aihara, N., Shiga, T., Horiuchi, N., Kamiie, J. :
Diversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies. Vet Pathol 61:432-441, 2023. Pubmed reference: 38006213. DOI: 10.1177/03009858231214028.
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.
2012 Nonneman, D.N., Brown-Brandl, T., Jones, S.A., Wiedmann, R.T., Rohrer, G.A. :
A defect in dystrophin causes a novel porcine stress syndrome. BMC Genomics 13:233, 2012. Pubmed reference: 22691118. DOI: 10.1186/1471-2164-13-233.

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
  • Changed by Imke Tammen2 on 17 Jan 2024