Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
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%.
['Takayama|T|T|', 'Takaoka|N|N|', 'Nagata|M|M|', 'Johnin|K|K|', 'Okada|Y|Y|', 'Tanaka|S|S|', 'Kawamura|M|M|', 'Inokuchi|T|T|', 'Ohse|M|M|', 'Kuhara|T|T|', 'Tanioka|F|F|', 'Yamada|H|H|', 'Sugimura|H|H|', 'Ozono|S|S|']
D000328:Adult D000429:Alcohol Oxidoreductases D044466:Asians D002648:Child D002675:Child, Preschool D005006:Ethnicity D005260:Female D006801:Humans D006960:Hyperoxaluria, Primary D007223:Infant D008297:Male D009154:Mutation D020641:Polymorphism, Single Nucleotide D017384:Sequence Deletion D044465:Whites
ethnic GRHPR mutation primary hyperoxaluria type 2