ArticleJournal of human genetics2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.Metabolic brain disease · 2021Pooled it
- Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.Molecular genetics and metabolism · 2011Trial
- Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.Molecular genetics and metabolism · 2009Trial
- Mapping the Severity of Phenylalanine Hydroxylase Deficiency.Journal of inherited metabolic disease · 2026Review
- Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.International journal of molecular sciences · 2026Article
- [Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports · 2023Article
- The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.Human genomics · 2023Article
- Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- A noncoding RNA modulator potentiates phenylalanine metabolism in mice.Science (New York, N.Y.) · 2021Article
- Article
- Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.Metabolic brain disease · 2019Article
- Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.Scientific reports · 2018Article
- Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.Iranian journal of medical sciences · 2018Article
- Genetics and genomic medicine in Tunisia.Molecular genetics & genomic medicine · 2018Article
- Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.Medical journal of the Islamic Republic of Iran · 2018Article
- Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.Scientific reports · 2015Article
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Human genetics · 2015Article
- Phenylketonuria: translating research into novel therapies.Translational pediatrics · 2014Review
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aims of our research were to define the genotype-phenotype correlations of mutations in the phenylalanine hydroxylase (PAH) gene that cause phenylketonuria (PKU) among the Israeli population. The mutation spectrum of the PAH gene in PKU patients in Israel is described, along with a discussion on genotype-phenotype correlations. By using polymerase chain reaction/denaturing high-performance liquid chromatography (PCR/dHPLC) and DNA sequencing, we screened all exons of the PAH gene in 180 unrelated patients with four different PKU phenotypes [classic PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia (MHP)]. In 63.2% of patient genotypes, the metabolic phenotype could be predicted, though evidence is also found for both phenotypic inconsistencies among subjects with more than one type of mutation in the PAH gene. Data analysis revealed that about 25% of patients could participate in the future in (6R)-L: -erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4) treatment trials according to their mutation genotypes. This study enables us to construct a national database in Israel that will serve as a valuable tool for genetic counseling and a prognostic evaluation of future cases of PKU.
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