title: Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
abstract: A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP patients (two sisters). The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. The possibility that the arginine 292 may participate at the active site of the enzyme is discussed. A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.
authors.affiliation: Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: de Verneuil
authors.forename: F
authors.initials: F
authors.lastname: Bourgeois
authors.forename: F
authors.initials: F
authors.lastname: de Rooij
authors.forename: P D
authors.initials: PD
authors.lastname: Siersema
authors.forename: J H
authors.initials: JH
authors.lastname: Wilson
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency / Q000235:genetics*
chemical_list: D014575:Uroporphyrinogen Decarboxylase