Identification of mutations causing 6-Pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

Human Mutation

Volumn 10, Issue 1, 1997, Pages 25-35

  Oppliger, Tanja ^a   Thöny, Beat ^a   Kluge, Claudia ^a   Matasovic, Ana ^a   Heizmann, Claus W ^a   Ponzone, Alberto ^b,c   Spada, Marco ^b   Blau, Nenad ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

Author keywords

6 pyruvoyl tetrahydrobiopterin synthase; Hyperphenylalaninemia; Recombinant expression; Tetrahydrobiopterin deficiency

Indexed keywords

DYSPROPTERIN; SYNTHETASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPHENYLALANINEMIA; ITALY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALCOHOL OXIDOREDUCTASES; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; BLOTTING, WESTERN; CELLS, CULTURED; DNA, COMPLEMENTARY; ENZYME STABILITY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENYLALANINE; PHOSPHORUS-OXYGEN LYASES; PTERINS; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0030854866     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L     Document Type: Article

References (14)

1. Blau N, Barnes I, Dhondt JL (1996) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19:8-14.
2. Bürgisser DM, Thöny B, Redweik U, Hunziker P, Heizmann CW, Blau N (1994) Expression and characterization of recombinant human and rat liver 6-pyruvoyl-tetrahydropterin synthase-modified cysteine residues inhibit the enzyme activity. Eur J Biochem 219:497-502.
3. Bürgisser D, Thöny B, Redweik U, Hess D, Heizmann CW, Huber R, Nar H (1995) 6-Pyruvoyl tetrahydropterin synthase: an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic motif. J Mol Biol 253:358-369.
4. 2O and of the enzymes involved. Eur J Biochem 148:413-419.
5. Hsiao KJ, Liu TT, Wu SJ, Wu KF, Chiang SH (1996) The mutations found in 6-pyruvoyl-tetrahydropterin synthase deficient phenylketonuria. 3rd ISNS Meeting Abstracts, p. 63.
6. Imamura T, Okano Y, Shintaku H, Hase Y, Oura T, Isshiki G (1995) Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Japanese. Am J Hum Genet 57:A180.
7. Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B (1996) The human PTS gene encoding the 6-pyruvoyl-tetrahydropterin synthase: chromosomal localization, genomic structure, and characterization of the single human gene and retropseudogene. Eur J Biochem 240:477-484.
8. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
9. Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.
10. Liu TT, Hsiao KJ (1996) Identification of a common 6-pyruvoyltetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. Hum Genet 98:313-316.
11. McKusick VA (1994) Mendelian Inheritance in Man. Baltimore: Johns Hopkins University Press.
12. Nar H, Huber R, Heizmann CW, Thöny B, Bürgisser D (1994) Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis. EMBO J 13:1255-1262.
13. Niedenvieser A, Leimbacher W, Curtius H-C, Ponzone A, Rey F, Leupold D (1985a) Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver. Eur J Pediatr 144:13-16.
14. Niederwieser A, Ponzone A, Curtius HC (1985b) Differential diagnosis of tetrahydrobiopterin deficiency. J Inherit Metab Dis 8:34-38.