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Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Radha Rama Devi, A. and Savithri, G.R. and Ratheesh, R. and Bashyam, L. and Mahesh, E. and Sen, D. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Vaidyanathan, S. and Chandrashekar, M.D. and Prameela, K. (2010) Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA. Molecular Genetics and Metabolism, 100 (1). pp. 96-99. ISSN 1096-7192

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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.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 28 Aug 2015 07:33
Last Modified: 15 Dec 2015 10:58
URI: http://cdfd.sciencecentral.in/id/eprint/413

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