428
Views
11
CrossRef citations to date
0
Altmetric
Original Article

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China

ORCID Icon, , , , , , , & show all
Pages 211-218 | Received 06 Sep 2017, Accepted 28 Jan 2018, Published online: 01 Feb 2018

References

  • Blau N, Shen N, Carducci C. Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn. 2014;14:655–671.
  • Mitchell JJ, Trakadis YJ, Scriver CR. Phenylalanine hydroxylase deficiency. Genet Med. 2011;13:697–707.
  • Schuck PF, Malgarin F, Cararo JH, et al. Phenylketonuria pathophysiology: on the role of metabolic alterations. A&D. 2015;6:390–399.
  • Zhan JY, Qin YF, Zhao ZY. Neonatal screening for congenital hypothyroidism and phenylketonuria in China. World J Pediatr. 2009;5:136–139.
  • Hole M, Jorge-Finnigan A, Underhaug J, et al. Pharmacological chaperones that protect tetrahydrobiopterin dependent aromatic amino acid hydroxylases through different mechanisms. CDT. 2016;17:1515–1526.
  • Winn SR, Scherer T, Thony B, et al. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU). Mol Genet Metab. 2016;117:5–11.
  • Karacic I, Meili D, Sarnavka V, et al. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2009;97:165–171.
  • Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004;82:101–111.
  • Yu W, He J, Yang X, et al. Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China. Int J Clin Exp Med. 2014;7:4406–4412.
  • Chen YF, Jia HT, Chen ZH, et al. Mutational spectrum of phenylketonuria in Jiangsu province. Eur J Pediatr. 2015;174:1333–1338.
  • Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376:1417–1427.
  • Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63:71–79.
  • Li N, Jia H, Liu Z, et al. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Sci Rep. 2015;5:15769.
  • Wang J, Wang BZ, Zhang Z, et al. Screening and group distribute regularity of congenital hypothyroidism of neonatal in Henan province. Zhonghua Liu Xing Bing Xue Za Zhi. 2006;27:825–826.
  • Gao WH, Zhang QB, Liu JP, et al. Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011;28:393–396.
  • Zhang JJ, Sun Y, Sun YJ, et al. Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013;30:513–517.
  • Song F, Qu YJ, Yang YL, et al. The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24:241–246.
  • Zhu T, Qin S, Ye J, et al. Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations. Pediatr Res. 2010;67:280–285.
  • Zhou YA, Ma YX, Zhang QB, et al. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China. Genet Mol Biol. 2012;35:709–713.
  • Luleyap HU, Alptekin D, Pazarbasi A, et al. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. Mutat Res. 2006;601:39–45.
  • Trunzo R, Santacroce R, D'Andrea G, et al. Phenylalanine hydroxylase deficiency in south Italy: genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness. Clin Chim Acta. 2015;450:51–55.
  • Polak E, Ficek A, Radvanszky J, et al. Phenylalanine hydroxylase deficiency in the Slovak population: genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness. Gene. 2013;526:347–355.
  • Okano Y, Kudo S, Nishi Y, et al. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. J Hum Genet. 2011;56:306–312.
  • Lee DH, Koo SK, Lee KS, et al. The molecular basis of phenylketonuria in Koreans. J Hum Genet. 2004;49:617–621.
  • Groselj U, Tansek MZ, Kovac J, et al. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. Mol Genet Metab. 2012;106:142–148.
  • Tyfield LA, Stephenson A, Cockburn F, et al. Sequence variation at the phenylalanine hydroxylase gene in the British Isles. Am J Hum Genet. 1997;60:388–396.
  • Guldberg P, Levy HL, Hanley WB, et al. Phenylalanine hydroxylase gene mutations in the United States: report from the maternal PKU collaborative study. Am J Hum Genet. 1996;59:84–94.
  • Sterl E, Paul K, Paschke E, et al. Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis. 2013;36:7–13.
  • Chao HK, Hsiao KJ, Su TS. A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria. Hum Genet. 2001;108:14–19.
  • Song F, Qu YJ, Zhang T, et al. Phenylketonuria mutations in Northern China. Mol Genet Metab. 2005;86(Suppl.1):S107–S118.
  • Carluccio C, Fraternali F, Salvatore F, et al. Structural features of the regulatory ACT domain of phenylalanine hydroxylase. PLoS One. 2013;8:e79482.
  • Aldamiz-Echevarria L, Llarena M, Bueno MA, et al. Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. J Hum Genet. 2016;61:731–744.
  • Trefz FK, Scheible D, Gotz H, et al. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. J Inherit Metab Dis. 2009;32:22–26.
  • Djordjevic M, Klaassen K, Sarajlija A, et al. Molecular genetics and genotype-based estimation of BH4-responsiveness in Serbian PKU patients: spotlight on phenotypic implications of p.L48S. JIMD Rep. 2013;9:49–58.
  • Zurfluh MR, Zschocke J, Lindner M, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat. 2008;29:167–175.
  • Kure S, Hou DC, Ohura T, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999;135:375–378.
  • Blau N, Belanger-Quintana A, Demirkol M, et al. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010;99:109–115.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.