The major allele of the alanine:glyoxylate aminotransferase gene: Seven novel mutations causing primary hyperoxaluria type 1

Molecular Genetics and Metabolism

Volumn 82, Issue 1, 2004, Pages 64-68

  Coulter Mackie, Marion B ^a   Applegarth, Derek ^a   Toone, Jennifer R ^a   Henderson, Howard ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

AGT; AGXT; Alanine glyoxylate aminotransferase; Hyperoxaluria; Mutation; Oxalosis; PH1

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNOLOGY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OXALOSIS 1; POPULATION GENETICS; PRIORITY JOURNAL;

ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; LIVER; MIDDLE AGED; MUTATION; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSAMINASES;

EID: 1942425103     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.02.001     Document Type: Article

References (21)

1. Danpure C.J. Primary hyperoxaluria. eighth ed. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. vol. 2:2001;3323-3367 McGraw-Hill, New York.
2. Danpure C.J., Jennings P.R., Fryer P., Purdue P.E., Allsop J. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. J. Inher. Metab. Dis. 17:1994;487-499.
3. M.B. Coulter-Mackie, C. White, R.M. Hurley, Primary hyperoxaluria type 1. in: Gene Reviews:Genetic Disease Online Reviews at GeneTests- GeneClinics{database online}. Available from http://www.geneclinics.org 2002 pp. 1-22.
4. Takada Y., Kaneko N., Esumi H., Purdue P.E., Danpure C.J. Human peroxisomal L-alanine:glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem. J. 268:1990;517-520.
5. Purdue P.E., Takada Y., Danpure C.J. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J. Cell Biol. 111:1990;2342-2351.
6. Purdue P.E., Allsop J., Isaya G., Rosenberg L.E., Danpure C.J. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc. Natl. Acad. Sci. USA. 88:1991;10900-10904.
7. Danpure C.J., Purdue P.E., Fryer P., Griffiths S., Allsop J., Lumb M.J., Guttridge K.M., Jennings P.R., Scheinman J.I., Mauer S.M., Davidson N.O. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to- mitochondrion mistargeting and intraperoxisomal aggregation. Am. J. Hum. Genet. 53:1991;417-432.
8. Toone J.R., Applegarth D.A. Micromethod for the assay of glutamate:glyoxylate aminotransferase and modifications of a micromethod for the assay of alanine:glyoxylate aminotransferase. Implications for the prenatal diagnosis of type 1 hyperoxaluria by fetal liver biopsy. Clin. Chim. Acta. 203:1991;105-106.
9. Purdue P.E., Lumb M.J., Allsop J., Danpure C.J. An intronic duplication in the alanine:glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. Hum. Genet. 87:1991;394-396.
10. Coulter-Mackie M.B., Tung A., Henderson H.E., Toone J.R., Applegarth D.A. The AGT gene in Africa: a distinctive minor allele haplotype,a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans. Mol. Genet. Metab. 78:2003;44-50.
11. von Schnakenburg C., Rumsby G. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J. Med. Genet. 34:1997;489-492.
12. Coulter-Mackie M.B., Rumsby G., Applegarth D.A., Toone J.R. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type1 hyperoxaluria. Mol. Genet. Metab. 74:2001;314-321.
13. den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15:2000;7-12.
14. Krawczak M., Reiss J., Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90:1992;41-54.
15. Frischmeyer P.A., Dietz J. Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8:1999;1893-1900.
16. Basmaison O., Rolland M., Cochat P., Bozon D. Identification of 5 novel mutations in the AGXT gene. Hum. Mutat. 2000;. ONLINE:#327.
17. Pirulli D., Puzzer D., Ferri L., Crovella S., Amoroso A., Ferrettini C., Petrarulo M., Marangella M., Florian F. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene. Hum. Genet. 104:1999;523-525.
18. Singh S., Tai C., Ganz G., Yeung C.K., Magil A., Rosenberg F., Applegarth D., Levin A. Steroid-responsive pleuropericarditis and livedo reticularis in an unusual case of adult onset primary hyperoxaluria. Am. J. Kidney Dis. 33:1999;E5.
19. Antonarakis S.E., Krawczak M., Cooper D.N. The nature and mechanisms of human gene mutation. eighth ed. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited disease. vol. 1:2001;343-344 McGraw-Hill, New York.
20. Amoroso A., Pirulli D., Puzzer D., Crovella S., Zezlina S., Spano A., Mazzola G., Savoldi S., Ferrettini C., Berutti S., Petrarulo M., Marangella M. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. J. Am. Soc. Nephrol. 12:2001;2072-2079.
21. Milosevic D., Rinat C., Batinic D., Frishberg Y. Genetic analysis - a diagnostic tool for primary hyperoxaluria. Pediatr. Nephrol. 17:2002;896-898.