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 pate

SUBMITTER: Li GM 

PROVIDER: S-EPMC4080780 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature