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Open Access Research article

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1

Guo-min Li1, Hong Xu1*, Qian Shen1, Yi-nv Gong1, Xiao-yan Fang1, Li Sun1, Hai-mei Liu1 and Yu An2*

Author Affiliations

1 Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China

2 Institutes of Biomedical Sciences of Fudan University, 120 Dongan Road, Xuhui District, Shanghai 200023, China

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BMC Nephrology 2014, 15:92  doi:10.1186/1471-2369-15-92

Published: 17 June 2014

Abstract

Background

Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.

Methods

Two unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutations in the AGXT gene by PCR direct sequencing.

Results

Two heterozygous mutations that predict truncated proteins, p.S81X and p.S275delinsRAfs, were identified in one patient. The p.S81X mutation is novel. Two heterozygous missense mutations, p.M1T and p.I202N, were detected in another patient but were not identified in her sibling. These four mutations were confirmed to be of paternal and maternal origin.

Conclusions

These are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China. The novel p.S81X and p.I202N mutations detected in our study extend the spectrum of known AGXT gene mutations.

Keywords:
AGXT gene; Chinese children; Mutational analysis; Novel mutation; Primary hyperoxaluria type 1