Mutational analysis of AGXT gene in Chinese patients with primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, is characterized by renal stones, nephrocalcinosis, and chronic kidney disease. PH1 is caused by defects in alanine glyoxylate aminotransferase (AGT, 392 amino-acid residues), which is encoded by the alanine-glyoxylate and serine-pyruvate aminotransferase (AGXT) gene. The most common mutation, c.33dupC, accounted for about 12% of the total alleles in PH1 patients in the literatures. This study aimed to determine the clinical, and mutation spectrum of patients with PH1 from mainland China.