Two novel PAH gene mutations detected in Italian phenylketonuric patients

Alessandra Argiolas, Paolo Bosco, Francesco Calì, Nadia Ceratto, Guido Anello, Enrica Riva, Giacomo Biasucci, Carla Carducci, Valentino Romano

Research output: Contribution to journalArticlepeer-review


We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the latter mutation is linked to the same haplotype (H4) in both Chinese and Italian patients, suggesting a common origin. In vivo assessment of mutation severity indicates that N207S is associated with classic PKU. The identification of these two new mutations further extends the remarkable heterogeneity of the PAH locus in the Italian population.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalHuman Genetics
Issue number2
Publication statusPublished - Feb 1997

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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