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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
Author(s) -
Guzzetta V.,
Bonapace G.,
Dianzani I.,
Parenti G.,
Lecora M.,
Giannattasio S.,
Concolino D.,
Strisciuglio P.,
Sebastio G.,
Andria G.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005315106604
Subject(s) - phenylalanine hydroxylase , transversion , mutation , genetics , allele , phenylketonurias , biology , gene , gene mutation , phenylalanine , amino acid
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.