OMIA 001685-9823 : Stress syndrome in Sus scrofa

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.

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" (Nonneman et al., 2012)

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

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Stress syndrome DMD missense c.C>T p.R1958W 2012 22691118

Reference


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