Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834089 | Molecular Genetics and Metabolism | 2010 | 4 Pages |
Abstract
Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3â² UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3â² splice site mutation c.168-2A>G resulted in the activation of a cryptic 3â² 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.
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Authors
Murali D. Bashyam, Ajay K. Chaudhary, E. Chandrakanth Reddy, A. Radha Rama Devi, G.R. Savithri, R. Ratheesh, Leena Bashyam, E. Mahesh, Dity Sen, Ratna Puri, Inder C. Verma, Sheela Nampoothiri, Sunitha Vaidyanathan, Mataguru D. Chandrashekar,