Identification of new mutations in primary hyperoxaluria type 1 (PH1)

Journal of Nephrology

Volumn 11, Issue SUPPL. 1, 1998, Pages 15-17

  Von Schnakenburg, Christian ^a   Rumsby, Gill ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

AGXT; Genetics; Hyperoxaluria; Oxalate; SSCP

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE;

CONFERENCE PAPER; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HYPEROXALURIA; MAJOR CLINICAL STUDY; PEROXISOME; PHENOTYPE;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; HYPEROXALURIA, PRIMARY; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSAMINASES;

EID: 0031971643     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (18)

1. Danpure CJ, Jennings PR. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type 1. FEBS Lett 1986; 201:20-4.
2. Latta K, Brodehl J. Primary hyperoxaluria type I. Eur J Pediatr 1990; 149:518-22.
3. Danpure CJ, Purdue PE. Primary hyperoxaluria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995; 2385-424.
4. Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ. Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J 1990; 268:517-20.
5. Purdue PE, Lumb MJ, Fox M, et al. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics 1991; 10:34-42.
6. Lu-Kuo J, Wards DC, Spritz RA. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the Waaredenburg syndrome, type 1 (WS1) locus (PAX3 gene). Genomics 1993; 16:173-9.
7. Tarn AC, von Schnakenburg C, Rumsby G. Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). J Inherit Metab Dis 1997; 20:689-96.
8. von Schnakenburg C, Rumsby G. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J Med Genet 1997; 34: 489-92.
9. Barratt TM, Kasidas GP, Murdoch I, Rose GA. Urinary oxalate and glycolate excretion and plasma oxalate concentration. Arch Dis Child 1991; 66:501-3.
10. Purdue PE, Takada Y, Danpure CJ. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 1990; 111:2341-51.
11. von Schnakenburg C, Weir T, Rumsby G. Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. Ann Hum Gen 1997; 61:365-8.
12. Krawczak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 1991; 86:425-441.
13. Rumsby G, Uttley WS, Kirk JM. First trimester diagnosis of primary hyperoxaluria type I. Lancet 1994; 344:1018.
14. Leiper JM, Oatey PB, Danpure CJ. Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. J Cell Biol 1996; 135:939-51.
15. Ishikawa K, Kaneko E, Ichiyama A. Pyridoxal 5′-phosphate binding of a recombinant rat serine:pyruvate/alanine:glyoxylate aminotransferase. J Biochem 1996; 119:970-8.
16. Lumb MJ, Purdue PE, Danpure CJ. Molecular evolution of alanine/glyoxylate aminotransferase 1 intracellular targeting. Analysis of the feline gene. Eur J Biochem 1994; 221:53-62.
17. Leumann EP, Niederwieser A, Fanconi A. New aspects of infantile oxalosis. Pediatr Nephrol 1987; 1:531-5.
18. Hoppe B, Danpure CJ, Rumsby G, et al. A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis 1997; 29:36-44.