Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

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• 作者：Murali D. Bashyam ; Ajay K. Chaudhary ; E. Ch ; rakanth Reddy ; A. Radha Rama Devi ; G.R. Savithri ; R. Ratheesh ; Leena Bashyam ; E. Mahesh ; Dity Sen ; Ratna Puri ; Inder C. Verma ; Sheela Nampoothiri ; Sunitha V
• 关键词：Phenylketonuria ; Phenylalanine hydroxylase ; Mutation ; Splicing ; Nonsense-mediated decay
• 刊名：Molecular Genetics and Metabolism
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：100
• 期：1
• 页码：96-99
• 全文大小：244 K

文摘

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.