Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2

Clin Genet. 2014 Oct;86(4):342-8. doi: 10.1111/cge.12292. Epub 2013 Nov 5.


The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene in patients with primary hyperoxaluria type 2 (PH2). GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association. We identified a novel mutation, a two-nucleotide deletion (c.248_249delTG) in exon 3 creating a premature 'stop' at codon 91. Also, we found that the c.864_865delTG mutation was associated with the rs35891798 single-nucleotide polymorphism. The allelic frequencies of the c.103delG, c.494G>A, c.403_404+2 delAAGT, and c.864_865delTG mutations in PH2 patients were 37.8%, 15.6%, 10.0%, and 10.0%, respectively. All patients with the c.103delG mutation were Caucasian. Patients with the c.494G>A mutation and 78% (7/9) of those with the c.403_404+2 delAAGT mutation were from the Indian subcontinent, whereas those with the c.864_865delTG mutation were Chinese or Japanese. Molecular analysis of GRHPR of four Japanese PH2 patients identified a novel mutation (c.248_249delTG in exon 3). Caucasians with PH2 should be screened for the c.103delG mutation; patients from the Indian subcontinent for c.494G>A; and patients of East Asian origin (particularly) for c.864_865delTG. The prevalence of the latter mutation in PH2 patients from East Asia was 75.0%.

Keywords: GRHPR; ethnic; mutation; primary hyperoxaluria type 2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alcohol Oxidoreductases / genetics*
  • Asians / genetics
  • Child
  • Child, Preschool
  • Ethnicity / genetics
  • Female
  • Humans
  • Hyperoxaluria, Primary / etiology
  • Hyperoxaluria, Primary / genetics*
  • Infant
  • Male
  • Mutation
  • Polymorphism, Single Nucleotide
  • Sequence Deletion
  • Whites / genetics


  • Alcohol Oxidoreductases
  • glyoxylate reductase

Supplementary concepts

  • Primary hyperoxaluria type 2