Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria |
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| Authors: | Hubert de Verneuil Francine Bourgeois Felix de Rooij Peter D Siersema J H P Wilson Bernard Grandchamp Yves Nordmann |
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| Institution: | (1) Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, 16, Rue Henri Huchard, F-75018 Paris, France;(2) Laboratoire de Biochimie, Hôpital Louis Mourier, 178, Rue des Renouillers, F-92701 Colombes Cédex, France;(3) Department of Internal Medicine II, University Hospital Dijkzigt, NL-3015 Rotterdam, GD, The Netherlands;(4) Present address: Département de Biochimie et Biologie Moléculaire, Université Bordeaux II, 146, Rue Léo Saignat, F-33076 Bordeaux Cédex, France |
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| Abstract: | Summary 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. |
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