IDENTIFICATION OF NEW MUTATIONS IN PRIMARY HYPEROXALURIA TYPE-1 (PH1)

Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the hepa tic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), The AGXT gene, which codes for the 392 amino acid protein, has been mapped to chromosome 2q37.3. In order to identify new mutations in the AGXT gene we studied 79 PH1 patients using single strand conformation polym orphism analysis. In addition to a cluster of new mutations in exon 7 we report five novel mutations in exons 2, 4, 5, 9 and 10. These are T 444C, G640A, G690A, 1008-1010delGCG and G1171A. These five new mutatio ns contribute to our knowledge of the AGXT gene, Their possible conseq uences for PH1 phenotype and enzyme activity are discussed.