ArticleExperimental & molecular medicine2008
Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Article in Experimental & molecular medicine, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026Article
- The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.International journal of stem cells · 2025Article
- [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
- Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.Scientific reports · 2025Article
- Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.Frontiers in pediatrics · 2025Article
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.Molecular genetics & genomic medicine · 2023Article
- Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.Orphanet journal of rare diseases · 2023Article
- The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.Human genomics · 2023Article
- Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.Frontiers in genetics · 2023Article
- Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.Molecular biology reports · 2022Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Article
- Bone fragility in patients affected by congenital diseases non skeletal in origin.Orphanet journal of rare diseases · 2021Review
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2021Article
- E3 Ubiquitin Ligase APC/CInternational journal of molecular sciences · 2020Article
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2019Article
- A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.World journal of pediatrics : WJP · 2015Article
- Clinical utility gene card for: Phenylketonuria.European journal of human genetics : EJHG · 2012Article
- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.Experimental & molecular medicine · 2010Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause PKU in various ethnic groups, and large deletions or duplications account for up to 3% of the PAH mutations in some ethnic groups. However, a previous study could not identify approximately 14% of the mutant alleles by sequence analysis in Korean patients with PKU, which suggests that large deletions or duplication might be frequent causes of PKU in Koreans. To test this hypothesis, we performed multiplex ligation-dependent probe amplification (MLPA) for the identification of uncharacterized mutant alleles after PAH sequence analysis of 33 unrelated Korean patients with PKU. Bi-directional sequencing of the PAH exons and flanking intronic regions revealed 27 different mutations, including four novel mutations (two missense and two deletion mutations), comprising 57/66 (86%) mutant alleles. MLPA identified a large deletion that encompassed exons 5 and 6 in four patients, another large deletion that extended from exon 4 to exon 7 in one patient, and a duplication of exon 4 in one patient. Chromosomal walking characterized the deletion breakpoint of the most common large deletion that involved exons 5 and 6 (c.456_706+138del). The present study shows that the allelic frequency of exon deletion or duplication is 9% (6/66) in Korean PKU patients, which suggests that these mutations may be frequent causes of PKU in Korean subjects.
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