OMIA 000420-9796 : Glycogen storage disease IV in Equus caballus

In other species: domestic cat , dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232500 (trait) , 607839 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2004

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on biochemical and histopathological evidence relating to the homologous disorder in other species), Ward et al. (2004) showed that this disorder in American Quarter horses is due to a 102C>A base substitution in exon 1 of the GBE1 gene encoding glycogen branching enzyme, resulting in a Y34X nonsense mutation.

Breed: American Quarter Horse.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GBE1 glucan (1,4-alpha-), branching enzyme 1 Equus caballus 26 NC_009169.3 (8667550..8912224) GBE1 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.

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
322 American Quarter Horse Glycogen storage disease IV GBE1 nonsense (stop-gain) Naturally occurring variant 26 c.102C>A p.(Y34*) 2004 15366377

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.
2020 Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. :
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621.
Pinzon-Arteaga, C., Snyder, M.D., Lazzarotto, C.R., Moreno, N.F., Juras, R., Raudsepp, T., Golding, M.C., Varner, D.D., Long, C.R. :
Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9. Sci Rep 10:7411, 2020. Pubmed reference: 32366884. DOI: 10.1038/s41598-020-62723-3.
2009 Tryon, RC., Penedo, MC., McCue, ME., Valberg, SJ., Mickelson, JR., Famula, TR., Wagner, ML., Jackson, M., Hamilton, MJ., Nooteboom, S., Bannasch, DL. :
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc 234:120-5, 2009. Pubmed reference: 19119976. DOI: 10.2460/javma.234.1.120.
2004 Ward, TL., Valberg, SJ., Adelson, DL., Abbey, CA., Binns, MM., Mickelson, JR. :
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome 15:570-7, 2004. Pubmed reference: 15366377.
2003 Ward, T.L., Valberg, S.J., Lear, T.L., Guérin, G., Milenkovic, D., Swinburne, J.E., Binns, M.M., Raudsepp, T., Skow, L., Chowdhary, B.P., Mickelson, J.R. :
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. Cytogenet Genome Res 102:201-6, 2003. Pubmed reference: 14970703. DOI: 10.1159/000075749.
2001 Valberg, S.J., Ward, T.L., Rush, B., Kinde, H., Hiraragi, H., Nahey, D., Fyfe, J., Mickelson, J.R. :
Glycogen branching enzyme deficiency in quarter horse foals Journal of Veterinary Internal Medicine 15:572-580, 2001. Pubmed reference: 11817063.

Edit History


  • Created by Frank Nicholas on 03 Jul 2009
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Oct 2012