OMIA 001139-9913 : Glycogen storage disease V in Bos taurus

In other species: sheep

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: 1996

Species-specific name: Myophosphorylase deficiency

Species-specific description: The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.

Inheritance: As reported by Angelos et al. (1995), six calves from a single Charolais herd were diagnosed after one of the calves was presented to the Veterinary Medical Teaching Hospital of the School of Veterinary Medicine at the University of California, Davis. The sire and dam of each of the six calves had a common ancestor. The data were consistent with autosomal recessive inheritance.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Tsujino et al. (1996) showed that the disorder in these Charolais cattle is due to a missense mutation in codon 489 of the gene for myophosphorylase.

Clinical features: History of recumbency following forced exercise; severe rhabdmyolysis; dehydration; and electrolyte imbalance.

Genetic testing: A PCR test could easily be devised from the information provided by Tsujino et al. (1996)

Breed: Charolais.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PYGM phosphorylase, glycogen, muscle Bos taurus 29 NC_037356.1 (42997404..42985604) PYGM 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.

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
Charolais Glycogen storage disease V PYGM missense UMD3.1 29 g.43611783 c.1468C>T p.R490W 1996 8845714 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2007 Cítek, J., Rehout, V., Vecerek, L., Hájková, J. :
Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. J Vet Med A Physiol Pathol Clin Med 54:257-9, 2007. Pubmed reference: 17523960. DOI: 10.1111/j.1439-0442.2007.00931.x.
2004 Johnstone, AC., McSporran, KD., Kenny, JE., Anderson, IL., Macpherson, GR., Jolly, RD. :
Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. N Z Vet J 52:404-8, 2004. Pubmed reference: 15768143. DOI: 10.1080/00480169.2004.36459.
2002 Soethout, EC., Verkaar, EL., Jansen, GH., Muller, KE., Lenstra, JA. :
A direct StyI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for the myophosphorylase mutation in cattle. J Vet Med A Physiol Pathol Clin Med 49:289-90, 2002. Pubmed reference: 12227470.
1998 Bilstrom, J.A., Valberg, S.J., Bernoco, D., Mickelson, J.R. :
Genetic test for myophosphorylase deficiency in Charolais cattle American Journal of Veterinary Research 59:267-270, 1998. Pubmed reference: 9522942.
1996 Tsujino, S., Shanske, S., Valberg, S.J., Cardinet, G.H., Smith, B.P., Dimauro, S. :
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease Neuromuscular Disorders 6:19-26, 1996. Pubmed reference: 8845714.
1995 Angelos, S., Valberg, S.J., Smith, B.P., Mcquarrie, P.S., Shanske, S., Tsujino, S., Dimauro, S., Cardinet, G.H. :
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle Muscle & Nerve 18:736-740, 1995. Pubmed reference: 7783763. DOI: 10.1002/mus.880180710.

Edit History


  • Created by Frank Nicholas on 12 May 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 May 2012
  • Changed by Frank Nicholas on 31 Aug 2012
  • Changed by Frank Nicholas on 28 Sep 2015