Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes

Human Mutation

Volumn 10, Issue 1, 1997, Pages 11-20

  Thöny, Beat ^a   Blau, Nenad ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DYSPROPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; SYNTHETASE;

ALLELE; AUTOSOMAL RECESSIVE INHERITANCE; DNA POLYMORPHISM; EXON; GENE MUTATION; GENE STRUCTURE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; PRIORITY JOURNAL; REVIEW;

ALCOHOL OXIDOREDUCTASES; ALLELES; BIOPTERIN; GTP CYCLOHYDROLASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHOSPHORUS-OXYGEN LYASES; POLYMORPHISM, GENETIC; RNA SPLICING;

EID: 0030877470     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P     Document Type: Review

References (14)

1. Ashida A, Owada M, Hatakeyama K (1994) A missense (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics 24:408-410.
2. Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE (1996) Dopa-responsive dystonia in British patients - new mutations of the GTP cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 5:403-406.
3. Blau N, Joller P, Atares M, Cardesa-Garcia J, Niederwieser A (1985) Increase of GTP cyclohydrolase I activity in mononuclear blood cells by Stimulation: Detection of heterozygotes of GTP cyclohydrolase I deficiency. Clin Chim Acta 148:47-52.
4. Blau N, Thöny B, Heizmann CW, Dhondt JL (1993) Tetrahydrobiopterin deficiency: From phenotype to genotype. Pteridines 4:1-10.
5. Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A (1994) Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. Clin Chim Acta 226:159-169.
6. Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB (1995) A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J Pediatr 126:401-405.
7. Blau N, Barnes I, Dhondt JL (1996a) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19:8-14.
8. Blau N, Thöny B, Spada M, Ponzone A (1996b) Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr 38:19-35.
9. Bürgisser DM, Thöny B, Redweik U, Hunziker P, Heizmann CW, Blau N (1994) Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydrobiopterin synthase - Modified cysteine residues inhibit the enzyme activity. Eur J Biochem 219:497-502.
10. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
11. Dhondt JL, Tilmont P, Ringel J, Farriaux JP (1990) Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency. J Inherit Metab Dis 13:879-882.
12. Fryburg JS, Trugman JM, Wilson WG, Hyland K (1995) Peripheral biopterin defect in Dopa-responsive dystonia demonstrated with a phenylalanine load test. Am J Hum Genet 75 (suppl 4):A178.
13. Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H, Yokochi M, Narabayashi H, Hornykiewicz O, Mizuno Y, Kish SJ (1996) GTP cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol 39:609-617.
14. Gütlich M, Jaeger E, Rucknagel KP, Werner T, Rodl W, Ziegler I, Bacher A (1994a) Human GTP cyclohydrolase I: Only one out of three cDNA isoforms gives rise to the active enzyme. Biochem J 302:215-221.