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OMIA:000420-9685 : Glycogen storage disease IV in Felis catus (domestic cat)

In other species: dog , horse

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232500 (trait) , 607839 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2007

Cross-species summary: Glycogen storage disease caused by glycogen branching enzyme (GBE) deficiency

Species-specific symbol: GSD IV

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."

Clinical features: Fyfe et al. (2007) created an "outbred GSD IV breeding colony derived from a purebred GSD IV carrier related to the originally reported [Fyfe et al., 1992] affected NFCs [Norwegian Forest cats]." The authors "report that while most affected kittens die at or soon after birth, presumably due to hypoglycemia, survivors of the perinatal period appear clinically normal until onset of progressive neuromuscular degeneration at 5 months of age."

Breed: Norwegian Forest Cat (Cat) (VBO_0100178).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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_058376.1 (34811042..34520402) 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 Year Published PubMed ID(s) Acknowledgements
742 Norwegian Forest Cat (Cat) Glycogen storage disease IV GBE1 delins, gross (>20) Naturally occurring variant Felis_catus_9.0 C2 g.34744479_34781895delinsN[334] published as "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" 2007 17257876 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000420-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2022 Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. :
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804.
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.
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. Pediatr Res 32:719-25, 1992. Pubmed reference: 1337588. DOI: 10.1203/00006450-199212000-00020.

Edit History


  • Created by Frank Nicholas on 17 Aug 2007
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Imke Tammen2 on 27 May 2023