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.
cited By (since 1996)3
M. Da Bashyam, Chaudhary, A. Ka, Reddy, E. Ca, Devi, A. RbRama, Savithri, G. Rac, Ratheesh, Ra, Bashyam, Lb, Mahesh, Ea, Sen, Da, Puri, Rd, Verma, I. Cd, Nampoothiri, Se, Vaidyanathan, Se, Chandrashekar, M. Df, and Kantheti, Pf, “Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA”, Molecular Genetics and Metabolism, vol. 100, pp. 96-99, 2010.