title: Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
abstract: Phenylketonuria (PKU) is an autosomal recessive disease caused by the deficiency of a liver-specific enzyme, phenylalanine hydroxylase (PAH). The pattern of PAH mutations in Mediterranean populations appears to be different from that observed in northern Europe and Asia. Our aim was to study the molecular basis of PKU in Campania and Calabria, two regions of southern Italy. We studied 99 unrelated alleles, detecting 75.8% of the mutations. Our results show that 57% of all the PKU alleles are caused by three different mutations: IVS10nt-546, R261Q and L48S, which display significant differences in their relative distribution across Italy. A novel mutation, a G-to-T transversion at the codon 257 (G257C), was also identified. This mutation results in a Gly-to-Cys change in the catalytic domain of the protein.
authors.affiliation: Dipartimento di Pediatria, Universita Federico II, Napoli, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Guzzetta
authors.forename: G
authors.initials: G
authors.lastname: Bonapace
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: M
authors.initials: M
authors.lastname: Lecora
authors.forename: S
authors.initials: S
authors.lastname: Giannattasio
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D010651:Phenylalanine Hydroxylase