OMIA:001685-9823 : Stress syndrome, DMD-related in Sus scrofa (pig)
Categories: Cardiovascular system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
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)
|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|
|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||rs196952080||2012||22691118|
Cite this entry
|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.|
- 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