title: Identification of new mutations in primary hyperoxaluria type 1 (PH1).
abstract: Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the hepatic 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 polymorphism 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 T444C, G640A, G690A, 1008-1010delGCG and G1171A. These five new mutations contribute to our knowledge of the AGXT gene. Their possible consequences for PH1 phenotype and enzyme activity are discussed.
authors.affiliation: Molecular Pathology, University College London, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: von Schnakenburg
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
mesh_terms: D000328:Adult; D002648:Child; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000637:Transaminases / Q000172:deficiency / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase