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 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
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