title: Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
abstract: The porphyrias are disorders of porphyrin metabolism that result from inherited or acquired aberrations in the control of the heme biosynthetic pathway. Variegate porphyria is characterized by a partial reduction in the activity of protoporphyrinogen oxidase. In this study, we identified the first nonsense mutation in a family with variegate porphyria. The mutation consisted of a previously unreported G-to-T transversion in exon 5 of the protoporphyrinogen oxidase gene, resulting in the substitution of glutamic acid by a nonsense codon, designated E133X. Our investigation establishes that a nonsense mutation in the protoporphyrinogen oxidase gene is the underlying mutation in this family with variegate porphyria.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York 10032, USA.
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: F K
authors.initials: FK
authors.lastname: Jugert
authors.forename: K
authors.initials: K
authors.lastname: Kalka
authors.forename: G
authors.initials: G
authors.lastname: Goerz
authors.forename: H F
authors.initials: HF
authors.lastname: Merk
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D005420:Flavoproteins; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D009692:Nucleic Acid Heteroduplexes; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase