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NDT Advance Access originally published online on May 17, 2007
Nephrology Dialysis Transplantation 2007 22(8):2371-2374; doi:10.1093/ndt/gfm271
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2

Tatsuya Takayama1,2, Masao Nagata2, Seiichiro Ozono2, Katsuya Nonomura3 and Scott D. Cramer1

1Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157, USA 2Department of Urology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, Shizuoka 431-3192, Japan and 3Department of Renal & Genitourinary Surgery, Graduate School of Medicine, Hokkaido University, North-15 West-7, Kitaku, Sapporo, Hokkaido 060-8638, Japan

Correspondence and offprint requests to: Dr Tatsuya Takayama, Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157, USA. Email: ttakayam@hama-med.ac.jp

Keywords: genotype; glyoxylate reductase/hydroxypyruvate reductase (GRHPR); hyperoxaluria; phenotype; primary hyperoxaluria type2

The first 150 words of the full text of this article appear below.



   Introduction
 
Primary hyperoxaluria type 2 (PH2) is a rare monogenic genetic disorder with an autosomal recessive pattern of inheritance. The disease is caused by mutations in the GRHPR gene encoding the glyoxylate/hydroxypyruvate reductase enzyme [2,12]. The high urinary excretion of oxalate and L-glycerate is a characteristic biochemical feature of PH2. Pathologically, the increased plasma and urinary oxalate leads to calcium oxalate supersaturation in the collecting ducts, which causes progressive renal deposition of calcium oxalate in the kidney, in the form of urolithiasis and/or nephrocalcinosis. In severe cases, this occasionally leads to renal failure and/or systemic oxalosis.

The diagnostic tools of PH2 include the measurement of urinary oxalate and L-glycerate, genotyping for mutations of the GRHPR gene, the measurement of GRHPR enzymatic activity in the blood cells [5,13] and measurement of enzymatic activity in liver tissue. None of these assays are ideal. Measurement of . . . [Full Text of this Article]



   Case report
 


   DNA extraction and amplification and sequence analysis
 


   Site-directed mutagenesis-construction of a missense mutant
 


   Transient transfection and enzymatic activities
 


   Results and Discussion
 

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