title: Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
abstract: This report identifies 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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto per la Ricerca sul Ritardo Mentale e l'Involuzione Cerebrale (I.R.C.C.S.), Troina, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Bosco
authors.forename: F
authors.initials: F
authors.lastname: Cali
authors.forename: C
authors.initials: C
authors.lastname: Meli
authors.forename: F
authors.initials: F
authors.lastname: Mollica
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: R
authors.initials: R
authors.lastname: Cerone
authors.forename: C
authors.initials: C
authors.lastname: Vanni
authors.forename: L
authors.initials: L
authors.lastname: Palillo
authors.forename: D
authors.initials: D
authors.lastname: Greco
authors.forename: V
authors.initials: V
authors.lastname: Romano
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018740:Genetic Heterogeneity; D006801:Humans; D007558:Italy; D009154:Mutation / Q000235:genetics*; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000097:blood / Q000235:genetics*; D012326:RNA Splicing
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase