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

Abstract

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%.

• Authors: T Takayama, N Takaoka, M Nagata, K Johnin, Y Okada, S Tanaka, M Kawamura, T Inokuchi, M Ohse, T Kuhara, F Tanioka, H Yamada, H Sugimura, S Ozono
• Journal: Clinical genetics (Clin Genet) Vol. 86 Issue 4 Pg. 342-8 (Oct 2014) ISSN: 1399-0004 [Electronic] Denmark
• PMID: 24116921 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Chemical References

• Alcohol Oxidoreductases
• glyoxylate reductase

Topics

• Adult
• Alcohol Oxidoreductases (genetics)
• Asian People (genetics)
• Child
• Child, Preschool
• Ethnicity (genetics)
• Female
• Humans
• Hyperoxaluria, Primary (etiology, genetics)
• Infant
• Male
• Mutation
• Polymorphism, Single Nucleotide
• Sequence Deletion
• White People (genetics)