caa a22 4500 467984360 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208933 doi (NATIONALLICENCE)springer-10.1007/BF00208933 A probable sex difference in mutation rates in ornithine transcarbamylase deficiency [Elektronische Daten] [Catherine Bonaïti-Pellié, Anna Pelet, Hélène Ogier, Jean-René Nelson, Claude Largillière, Jacques Berthelot, Jean-Marie Saudubray, Arnold Munnich] Summary: Ornithine transcarbamylase deficiency is an X-linked disease with possible manifestations in heterozygous females. Using segregation analysis in families from the literature pooled with a French series, the penetrance could be estimated to be 17% in heterozygous females (15% with severe and 2% with milder symptoms). Using these estimates, the proportion of sporadic cases among heterozygous females and hemizygous males could be derived. This proportion is 57% in females. In males, it depends on mutation rate values: assuming equal mutation rates in sperm and eggs, this proportion should be 40%. However, this value can be strongly rejected based on the proportion of isolated cases in male sibships. In both sets of data, segregation analysis provided no evidence for sporadic affected males, suggesting that there are virtually no mutations in eggs. The upper limit of the confidence interval, 0%-16%, can be taken as the maximum prior probability that an affected male occurs as the result of a new mutation in his mother's germ cells. Springer-Verlag, 1990 Bonaïti-Pellié Catherine Unité de Recherche d'Epidémiologie Génétique INSERM U155, Chateau de Longchamp — Bois de Boulogne, F-75016, Paris, France aut Pelet Anna Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut Ogier Hélène Hôpital Robert-Debré, 48 Boulevard Serrurier, F-75019, Paris, France aut Nelson Jean-René Service de Pédiatrie, Hôpital Robert-Boulin, F-33505, Libourne, France aut Largillière Claude Cité Hospitalière, F-59000, Lille, France aut Berthelot Jacques Service de Pédiatrie A, CHU d'Angers, F-49033, Angers Cedex, France aut Saudubray Jean-Marie Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut Munnich Arnold Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut Human Genetics Springer-Verlag 84/2(1990-01-01), 163-166 0340-6717 84:2<163 1990 84 439 https://doi.org/10.1007/BF00208933 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208933 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bonaïti-Pellié Catherine Unité de Recherche d'Epidémiologie Génétique INSERM U155, Chateau de Longchamp — Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Pelet Anna Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut NATIONALLICENCE 700 1- Ogier Hélène Hôpital Robert-Debré, 48 Boulevard Serrurier, F-75019, Paris, France aut NATIONALLICENCE 700 1- Nelson Jean-René Service de Pédiatrie, Hôpital Robert-Boulin, F-33505, Libourne, France aut NATIONALLICENCE 700 1- Largillière Claude Cité Hospitalière, F-59000, Lille, France aut NATIONALLICENCE 700 1- Berthelot Jacques Service de Pédiatrie A, CHU d'Angers, F-49033, Angers Cedex, France aut NATIONALLICENCE 700 1- Saudubray Jean-Marie Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut NATIONALLICENCE 700 1- Munnich Arnold Clinique, Unité de Recherche de Génétique Médicale INSERM U12, Hôpital des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex, 15, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 163-166 0340-6717 84:2<163 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer