References
- Blau N. Genetics of phenylketonuria: Then and Now[J]. Human
Mutation, 2016,37(6):508-515.
- Jerry, Vockley,Hans C, Andersson,Kevin M, Antshel,Nancy E,
Braverman,Barbara K, Burton,Dianne M, Frazier,John, Mitchell,Wendy E,
Smith,Barry H, Thompson,Susan A, Berry.Phenylalanine hydroxylase
deficiency: diagnosis and management guideline.[J].Genetics in
medicine : official journal of the American College of Medical
Genetics,2014,16(2):188-200.
- Grody WW, Thompson BH, Gregg AR. ACMG position statement on
prenatal/preconception expanded carrier screening[J]. Genet Med,
2013,15(6):482-483.
- Neonatal screening group of birth defect prevention and Control
Committee of Chinese Preventive Medicine Association. Consensus on
diagnosis and treatment of hyperphenylalaninemia [J]. Chinese
Journal of Pediatrics, 2014,52 (6): 420-424.
- Kejian G., Xuan Z, Xigui C, Yili W, Chuanxin L., & Qingsheng K.
.Expanded newborn screening for inborn errors of metabolism and
genetic characteristics in a chinese population. [J]. Front
Genet, 2018,9:122.
- Bayat A., Yasmeen S , Lund A., Nielsen JB , Lisbeth Birk Møller.
Mutational and phenotypical spectrum of phenylalanine hydroxylase
deficiency in denmark. [J]. Clin Genet, 2016,90(3):247-251.
- Swanson, Jonathan R, Sinkin, Robert A. Early Births and Congenital
Birth Defects[J]. Clinics in Perinatology, 40(4):629-644.
- Liu Hongli, Li Fengxia. Analysis of screening treatment and follow-up
results of neonatal diseases in Shaanxi Province from 2010 to 2016
[J]. China Journal of child health, 2018,26 (11): 1221-1223.
- Liu N, Huang Q, Li Q. Spectrum of PAH gene variants among a population
of Han Chinese patients with phenylketonuria from northern
China[J]. BMC Med Genet, 2017,18(1):108.
- Wang R, Shen N, Ye J. Mutation spectrum of hyperphenylalaninemia
candidate genes and the genotype-phenotype correlation in the Chinese
population[J]. Clin Chim Acta, 2018,481:132-138.
- Scala I, Concolino D, Della CR. Long-term follow-up of patients with
phenylketonuria treated with tetrahydrobiopterin: a seven years
experience[J]. Orphanet J Rare Dis, 2015,10:14.
[12] Pengchen, JingZhua ,YanPu,YoujingJiang, DanChen,
HuiWang,JiongMao, BinZhou,LinboGao,PengBai,Weiboliang, LinZhang,
Microhaplotype identified and performed in genetic investigation using
PCR-SSCP[J]. Forensic Sci Int Genet, 2017,28:e1-e7.
Figure 1 PAH gene mutation sequences
(A) Sequence map of the p.R53H (c.158G>A) PAH gene
mutation. (B) Sequence map of the p.R243Q (c.728G>A) PAH
gene mutation. (C) Sequence map of the IVS7+2T>A
(c.842+2T>A) PAH gene mutation. (D) Sequence map of the
p.R111X (c.331C>T) PAH gene mutation. (E) Sequence map of
the p.Y204C (c.611A>G) PAH gene mutation. (F) Sequence map
of the p.R413P (c.1238G>C) PAH gene mutation.
: p.R413P homozygous mutation;
: p.R413P heterozygous mutation
(arrow indicates the mutation site; horizontal line shows the codon).
Figure 2 Sequence maps of PAH gene mutations
(A) Sequence map of the p.A47E (c.140C>A) PAH gene
mutation. (B) Sequence map of the p.I65S (c.194T>G) PAH
gene mutation. (C) Sequence map of the p.A259T (c.775G>A)
PAH gene mutation.
, Figure 3 Sequence maps of exons 10, 2, and 7 of the PAH gene
(A) Sequencing map of exon 10 of the PAH gene; p.C334X mutation
(c.1002C>A, arrow indicates the mutation site; horizontal
line shows the codon); normal gene sequence. (B) Sequencing map of exon
2 of the PAH gene; p.G46D mutation (c.137G>A, arrow
indicates the mutation site; horizontal line shows the codon); normal
gene sequence. (C) Sequence map of exon 7 of the PAH gene; p.G256D
mutation (c.767G>A, arrow indicates the mutation site;
horizontal line shows the codon); normal gene sequence.