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.
journal_name
BMC Nephroljournal_title
BMC nephrologyauthors
Li GM,Xu H,Shen Q,Gong YN,Fang XY,Sun L,Liu HM,An Ydoi
10.1186/1471-2369-15-92subject
Has Abstractpub_date
2014-06-17 00:00:00pages
92issn
1471-2369pii
1471-2369-15-92journal_volume
15pub_type
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