title: Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
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.
authors.forename: Guo-min
authors.initials: GM
authors.lastname: Li
authors.affiliation: Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China. hxu@shmu.edu.cn.
authors.forename: Hong
authors.initials: H
authors.lastname: Xu
authors.forename: Qian
authors.initials: Q
authors.lastname: Shen
authors.forename: Yi-nv
authors.initials: YN
authors.lastname: Gong
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Fang
authors.forename: Li
authors.initials: L
authors.lastname: Sun
authors.forename: Hai-mei
authors.initials: HM
authors.lastname: Liu
authors.forename: Yu
authors.initials: Y
authors.lastname: An
mesh_terms: D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000637:Transaminases / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase