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

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, Prameela Kantheti

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)96-99
Number of pages4
JournalMolecular Genetics and Metabolism
Volume100
Issue number1
DOIs
StatePublished - May 1 2010

Keywords

  • Mutation
  • Nonsense-mediated decay
  • Phenylalanine hydroxylase
  • Phenylketonuria
  • Splicing

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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