1.
Mol Genet Metab
; 100(1): 96-9, 2010 May.
Article
in English
| MEDLINE
| ID: mdl-20188615
ABSTRACT
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.
Subject(s)
Phenylalanine Hydroxylase/genetics , Phenylketonurias/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Mutation , Phenylketonurias/enzymology , RNA Splice Sites , Sequence Deletion
2.
Lancet
; 359(9309): 895-6, 2002 Mar 09.
Article
in English
| MEDLINE
| ID: mdl-11897323