Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
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.
de Verneuil
H
H
Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
Bourgeois
F
F
de Rooij
F
F
Siersema
P D
PD
Wilson
J H
JH
Grandchamp
B
B
Nordmann
Y
Y
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*
D014575:Uroporphyrinogen Decarboxylase