Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
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.
Frank
J
J
Department of Dermatology, Columbia University, New York, New York 10032, USA.
Jugert
F K
FK
Kalka
K
K
Goerz
G
G
Merk
H F
HF
Christiano
A M
AM
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
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