title: A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
abstract: We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. This novel mutation, M1I, disrupts the start codon of the gene by a G to A transition. The compound heterozygote genotype (IVS-12/M1I) of this patient predicts that no phenylalanine hydroxylase enzyme is formed, thus leading to a severe classical PKU. Determination of haplotypes and DNA fingerprint patterns indicates a paternal origin of the de novo mutation.
authors.affiliation: Department of Medical Genetics, Haukeland Hospital, University of Bergen, Norway.
authors.forename: H G
authors.initials: HG
authors.lastname: Eiken
authors.forename: P M
authors.initials: PM
authors.lastname: Knappskog
authors.forename: J
authors.initials: J
authors.lastname: Apold
authors.forename: L
authors.initials: L
authors.lastname: Skjelkvåle
authors.forename: H
authors.initials: H
authors.lastname: Boman
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*
chemical_list: D003062:Codon; D004247:DNA; D010651:Phenylalanine Hydroxylase