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OMIA 001139-9940 : Glycogen storage disease V in Ovis aries

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 232600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

Molecular basis: Tan et al. (1997) documented the first cases of ovine McArdle's disease, and then, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), showed the cause to be a G>A substitution at the 3' splice site of intron 19 of the gene for glycogen myophosphorylase, giving rise to an 8-base deletion at the 5' end of exon 20, creating a frameshift, and resulting in a premature stop codon which removes the last 31 amino-acids from the protein. The mutation is being maintained in a flock of carrier sheep.

Genetic testing: As explained by Tan et al. (1997), the base substitution eliminates an XbaI restriction site, thereby providing a simple PCR RFLP test for carriers.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PYGM phosphorylase, glycogen, muscle Ovis aries 21 NC_019478.2 (42198435..42186569) PYGM 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
Glycogen storage disease V PYGM splicing a G>A substitution at the 3' splice site of intron 19 1997 9267848
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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.
1999 Pari, G., Crerar, M.M., Nalbantoglu, J., Shoubridge, E., Jani, A., Tsujino, S., Shanske, S., DiMauro, S., Howell, J.M., Karpati, G. :
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro Neurology 53:1352-1354, 1999. Pubmed reference: 10522901.
1997 Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R., Laing, N.G. :
A splice-site mutation causing ovine McArdle's-disease Neuromuscular Disorders 7:336-342, 1997. Pubmed reference: 9267848.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012