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

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• 作者：Guo-min Li (1)
  Hong Xu (1)
  Qian Shen (1)
  Yi-nv Gong (1)
  Xiao-yan Fang (1)
  Li Sun (1)
  Hai-mei Liu (1)
  Yu An (2)
  
  1. Children鈥檚 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
  
• 关键词：AGXT gene ; Chinese children ; Mutational analysis ; Novel mutation ; Primary hyperoxaluria type 1
• 刊名：BMC Nephrology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：1,985 KB
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  34. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2369/15/92/prepub
  
• 刊物主题：Nephrology; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2369

文摘

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.