Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemeia

Paolo Bosco, Francesco Calì, Concetta Meli, Florindo Mollica, Enrico Zammarchi, Roberto Cerone, Cristina Vanni, Letizia Palillo, Donatella Greco, Valentino Romano

Research output: Contribution to journalArticlepeer-review


This report identities eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of the mutations, predicted phenotypic effect, and population of origin (Italian region) are as follows: F55L (nonconservative change: classic, moderate, mild PKU?; Sicily), IVS2nt-13 (splicing defect, classic PKU; Tuscany), I65N (nonconservative change classic, moderate, mild PKU ?; Sicily), H201Y (non-PKU HPA; Sicily), I269L (non-PKU HPA, or polymorphism; Sicily), IVS7nt3 (splicing defect or polymorphism; Sicily), I283N (classic PKU; Sicily), IVS12nt2 (splicing defect, classic PKU; Sicily and Apulia). In Sicily, the relative frequency of mutations F55L, I65N, H201Y, I269L, IVS7nt3, I283N, IVS12nt2 is ≤ 1%. The seven new mutations identified in the Sicilian population increase the remarkable genetic heterogeneity typical of this population with an estimated homozygosity value at the PAH locus of 0.041.

Original languageEnglish
Pages (from-to)240-243
Number of pages4
JournalHuman Mutation
Issue number3
Publication statusPublished - 1998


  • Mutation
  • Phenylalanine hydroxylase
  • Phenylketonuria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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