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

BMC Nephrology

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

[1] Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China;Institutes of Biomedical Sciences of Fudan University, 120 Dongan Road, Xuhui District, Shanghai 200023, China

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

Others  :  1082670
DOI  :  10.1186/1471-2369-15-92

 received in 2014-03-20, accepted in 2014-06-13,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Li et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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