Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA
Publication Type:Journal Article
Source:Molecular Genetics and Metabolism, Volume 100, Number 1, p.96-99 (2010)
Keywords:3' untranslated region, adolescent, adult, article, child, clinical article, consensus sequence, controlled study, female, gene deletion, gene mutation, human, Humans, India, male, messenger RNA, Mutation, phenylalanine, phenylalanine 4 monooxygenase, Phenylalanine Hydroxylase, phenylketonuria, Phenylketonurias, Preschool, priority journal, RNA Splice Sites, Sequence Deletion, tyrosine
Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3′ UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3′ splice site mutation c.168-2A>G resulted in the activation of a cryptic 3′ splice site that generated a premature termination codon leading to very low levels of the mutant transcript, probably due to activation of the nonsense-mediated decay (NMD) pathway. This is probably the first report of PKU caused by the activation of NMD. © 2010 Elsevier Inc. All rights reserved.
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