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

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300377 (gene) , 302045 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific description: see also OMIA:001888-9823 : Muscular dystrophy, Becker type in Sus scrofa (pig)

Molecular basis: Nonneman et al. (2012) reported a GWAS in a pedigree of USMARC pigs segregating for a novel stress syndrome. The scan implicated just one region, namely chromosome "SSCX at 25.1-27.7 Mb over the dystrophin gene (DMD)". A missense mutation (R1958W) in exon 41 of the dystrophin gene appears to be the causative mutation.

Clinical features: "The symptoms included open-mouth breathing, skin discoloration, vocalization and loss of mobility . . . sometimes resulting in death, during regular processing and weighing" (Nonneman et al., 2012)

Pathology: "Affected animals had elevated plasma creatine phosphokinase (CPK) levels before and immediately after isoflurane challenge and cardiac arrhythmias. ... Histopathology of affected left ventricular cardiac tissues showed evidence of myofibrillar degeneration and necrosis .... Myocardial fibers showed loss of cross-striation, pyknotic nuclei and associated aggregation of lymphocytes. Immunoblots of heart and skeletal muscle protein from 8 week-old pigs ... showed a dramatic reduction (~50%) in dystrophin protein in affected pigs compared to normal littermates" (Nonneman et al., 2012) Hollinger et al. (2014) investigated the skeletal muscle phenotype in pigs with this variant and classified these pigs as "representative of a Becker phenotype".

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


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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
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:001685-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 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.
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 19 Jan 2012
  • Changed by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 14 Jun 2012
  • Changed by Frank Nicholas on 10 Feb 2013
  • Changed by Imke Tammen2 on 10 Jul 2021
  • Changed by Imke Tammen2 on 17 Jan 2024