Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. (5th November 2013)

• Record Type: Journal Article
• Authors: Takayama, T.; Takaoka, N.; Nagata, M.; Johnin, K.; Okada, Y.; Tanaka, S.; Kawamura, M.; Inokuchi, T.; Ohse, M.; Kuhara, T.; Tanioka, F.; Yamada, H.; Sugimura, H.; Ozono, S.
• Is Part Of: Clinical genetics. Volume 86:Number 4(2014:Oct.)
• Page Start: 342
• Page End: 348
• Publication Date: 2013-11-05
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12292
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12292-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12292-para-0001">The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (<italic>GRHPR</italic>) gene in patients with primary hyperoxaluria type 2 (PH2). <italic>GRHPR</italic> was genotyped in Japanese patients with PH2 and all <italic>GRHPR</italic> 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 <italic>GRHPR</italic> 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%.</p> </abstract>