ArticleScientific reports2018
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.International journal of stem cells · 2025Article
- The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.Orphanet journal of rare diseases · 2025Article
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.International journal of neonatal screening · 2024Article
- Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with PhenylketonuriaIranian biomedical journal · 2023Article
- Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.Frontiers in genetics · 2023Article
- Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.Human genomics · 2022Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.International journal of neonatal screening · 2021Article
- Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020Review
- Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.EBioMedicine · 2020Article
- First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.Molecular genetics and metabolism reports · 2019Article
- Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.Frontiers in neurology · 2019Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the gene encoding phenylalanine hydroxylase (PAH) are associated with various degrees of phenylketonuria (PKU). The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene that cause phenylketonuria (PKU) among the Chinese mainland population. Mutations in the PAH gene were analysed by next-generation sequencing, and a genotype-phenotype correlation analysis was performed in 1079 patients. Fifteen "null + null" genotypes, including four homoallelic and eleven heteroallelic genotypes, were clearly associated with classic PKU. Five functionally hemizygous (p.E280K, p.R252Q, p.E56D, p.S310F and p.T372R) and four compound heterozygous (p.T278I/p.S359L, p.R408W/p.R243Q, p.F161S/p.R243Q and p.F161S/p.R413P) genotypes were clearly associated with classic PKU. Ten functionally hemizygous genotypes, p.G257V, p.R158W, p.L255S, p.G247V, p.F161S, p.R158Q, p.V388M, p.I65T, p.I324N and p.R400K, were frequently associated with classic PKU. Three functionally hemizygous genotypes, p.P147L, p.I95del and p.F331S, and four compound heterozygous genotypes, p.G257V/p.R408Q, p.A434D/p.R413P, p.R243Q/p.A47E and p.R241C/p.G239D, were consistently correlated with mild PKU. Three functionally hemizygous genotypes, p.H107R, p.Q419R and p.F392I, and nine compound heterozygous genotypes (p.G312V/p.R241C, p.R243Q/p.V230I, p.R243Q/p.A403V, p.R243Q/p.Q419R, p.R243Q/p.R53H, p.R243Q/p.H107R, p.R241C/p.R408Q, p.R241C/p.H220P and p.R53H/p.R400K) were consistent with mild hyperphenylalaninaemia (MHP). Our study provides further support for the hypothesis that the PAH genotype is the main factor that determines the phenotype of PKU.
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