caa a22 4500 39757486X CHVBK 20180308164852.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.407 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.407 Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria [Elektronische Daten] [Jean-Charles Deybach, Hervé Puy, Anne-Marie Robréau, Jérôme Lamoril, Vasco Da Silva, Bernard Grandchamp, Yves Nordmann] Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity. The molecular defect responsible for VP was investigated by sequencing PPOX gene coding sequence from four patients in three unrelated VP families of French Caucasian origin. In a first patient, a point insertion of a G at position 1022 of the cDNA, produced a frameshift resulting in a premature stop codon. In three other patients from two unrelated families we found a missense point mutation leading to glycine to arginine substitution (G232R) in exon 7. This Gly232 appears to be a strictly conserved residue through evolution. In one VP family, we observed the cosegregation of the G232R missense mutation and the deficient PPOX activity. The mutations reported here are the first to be described in patients with VP and support the conclusion that PPOX gene defects are disease causing mutations in human variegate porphyria. © 1996 Oxford University Press Deybach Jean-Charles Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Puy Hervé Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Robréau Anne-Marie Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Lamoril Jérôme Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Da Silva Vasco Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Grandchamp Bernard Laboratoire de Génétique Moléculaire, INSERM U409, Faculté de Médecine X. Bichat, Université Paris 7, 75018 Paris, France aut Nordmann Yves Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 407-410 0964-6906 5:3<407 1996 5 hmg https://doi.org/10.1093/hmg/5.3.407 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.407 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Deybach Jean-Charles Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 700 1- Puy Hervé Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 700 1- Robréau Anne-Marie Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 700 1- Lamoril Jérôme Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 700 1- Da Silva Vasco Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 700 1- Grandchamp Bernard Laboratoire de Génétique Moléculaire, INSERM U409, Faculté de Médecine X. Bichat, Université Paris 7, 75018 Paris, France aut NATIONALLICENCE 700 1- Nordmann Yves Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, 92701 Colombes Cedex, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 407-410 0964-6906 5:3<407 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford