OMIA 000420-9685 : Glycogen storage disease IV in Felis catus |
In other species:
horse
Possibly relevant human trait(s) and/or gene(s) (MIM number):
232500
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2007
Molecular basis:
As reported by Fyfe et al. (2007), "Affected cats are homozygous for a complex rearrangement of genomic DNA in GBE1, constituted by a 334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GBE1 | glucan (1,4-alpha-), branching enzyme 1 | Felis catus | C2 | NC_018731.3 (34981283..34690586) | 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 required column headers
| 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 IV | GBE1 | complex rearrangement | g. IVS11+1552_IVS12-1339 del6. | 2007 | 17257876 |
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 | Fyfe, JC., Kurzhals, RL., Hawkins, MG., Wang, P., Yuhki, N., Giger, U., Van Winkle, TJ., Haskins, ME., Patterson, DF., Henthorn, PS. : | |
| A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab 90:383-92, 2007. Pubmed reference: 17257876. DOI: 10.1016/j.ymgme.2006.12.003. | ||
| 1996 | Coates, J.R., Paxton, R., Cox, N.R., Braund, K.G., Steiss, J.E., Baker, H.J., Simpson, S.T. : | |
| A case presentation and discussion of type IV glycogen storage disease in a Norwegian forest cat Progress in Veterinary Neurology 7:5-11, 1996. | ||
| 1992 | Fyfe, J.C., Giger, U., Vanwinkle, T.J., Haskins, M.E., Steinberg, S.A., Wang, P., Patterson, D.F. : | |
| Glycogen Storage Disease Type-IV - Inherited Deficiency of Branching Enzyme Activity in Cats Pediatric Research 32:719-725, 1992. Pubmed reference: 1337588. |
Edit History
- Created by Frank Nicholas on 17 Aug 2007
- Changed by Frank Nicholas on 09 Dec 2011