OMIA 000821-9685 : Primary hyperoxaluria type II (Oxalosis II) in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 260000

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Species-specific symbol: PH2

Molecular basis: By sequencing the most likely comparative candidate gene (based on clinical signs), Goldstein et al (2009) identified a causal mutation as a "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4". They speculated "that the lack of the necessary terminal AG sequence of intron 4 would result in a misplicing event. This would result in the splicing out of exon 5, resulting in a shortened and abnormal mRNA and protein."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GRHPR glyoxylate reductase/hydroxypyruvate reductase Felis catus D4 NC_018735.3 (60963684..60975547) GRHPR 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
Primary hyperoxaluria type II (Oxalosis II) GRHPR splicing "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" 2009 Reference not in PubMed; see OMIA 000821-9685 for reference details

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.
2009 Goldstein, RE., Narala, S., Sabet, N., Goldstein, O., McDonough, SP. :
Primary Hyperoxaluria in Cats Is Caused by a Mutation in the Feline GRHPR Gene. J Hered 100 (Suppl. 1):S2-S7, 2009. DOI: https://doi.org/10.1093/jhered/esp038.
2006 Sewell, A.C. :
Feline primary hyperoxaluria. J Feline Med Surg 8:290, 2006. Pubmed reference: 16603399. DOI: 10.1016/j.jfms.2006.02.001.
2005 De Lorenzi, D., Bernardini, M., Pumarola, M. :
Primary hyperoxaluria (L-glyceric aciduria) in a cat. J Feline Med Surg 7:357-61, 2005. Pubmed reference: 15914058. DOI: 10.1016/j.jfms.2005.03.007.
1989 Danpure, C.J., Jennings, P.R., Mistry, J., Chalmers, R.A., Mckerrell, R.E., Blakemore, W.F., Heath, M.F. :
Enzymological Characterization of a Feline Analogue of Primary Hyperoxaluria Type-2 - A Model for the Human Disease Journal of Inherited Metabolic Disease 12:403-414, 1989. Pubmed reference: 2516173.
McKerrell, RE., Blakemore, WF., Heath, MF., Plumb, J., Bennett, MJ., Pollitt, RJ., Danpure, CJ. :
Primary hyperoxaluria (L-glyceric aciduria) in the cat: a newly recognised inherited disease. Vet Rec 125:31-4, 1989. Pubmed reference: 2773220.
1988 Blakemore, WF., Heath, MF., Bennett, MJ., Cromby, CH., Pollitt, RJ. :
Primary hyperoxaluria and L-glyceric aciduria in the cat. J Inherit Metab Dis 11 Suppl 2:215-7, 1988. Pubmed reference: 3141705.

Edit History


  • Created by Frank Nicholas on 01 Jul 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 18 Jun 2013