Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

Human Mutation
T T LiuW M Yu

Abstract

Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven single base mutations at nucleotides 73 (C>G), 155 (A>G), 166 (G>A), 209 (T>A), 259 (C>T), 286 (G>A), and 317 (C>T) on PTPS cDNA were detected in Chinese PTPS-deficient HPA by polymerase chain reaction and solid phase DNA sequencing. These nucleotide alterations result in R25G, N52S, V56M, V70D, P87S, D96N, and T106M amino acid substitutions, respectively. The R25G, V56M, V70D, and T106M were novel mutations found in PTPS gene. By analysis of 38 PTPS mutant alleles from 19 unrelated Chinese PTPS-deficient HPA families, the allele frequency of these mutations in Chinese PTPS-deficient HPA were determined to be approximately 5.3% (R25G), 34.2% (N52S), 7.9% (V56M), 2.6% (V70D), 36.8% (P87S), 7.9% (D96N), and 2.6% (T106M), respectively. Two common mutations, N52S and P87S, were found to account for 71% of the Chinese PTPS mutant alleles. The N52S mutation accounts for 48% of the southern Chinese PTPS mutation, but only one (9%) of the norther...Continue Reading

References

Dec 30, 1992·Biochemical and Biophysical Research Communications·B ThönyC W Heizmann
Jan 1, 1988·Annual Review of Nutrition·N Blau
Jan 1, 1994·Journal of Inherited Metabolic Disease·H ShintakuT Oura
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Citations

Jan 13, 2012·Journal of Human Genetics·Yen-Hui ChiuTze-Tze Liu
Mar 28, 2002·Journal of Inherited Metabolic Disease·Y H ChienW L Hwu
Apr 28, 2021·Molecular Genetics and Metabolism·Nastassja HimmelreichBeat Thöny
Nov 6, 2001·Clinica Chimica Acta; International Journal of Clinical Chemistry·T T LiuK J Hsiao

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