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Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia |
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| Authors: | Bertrand Segues Jean-Michel Rozet Brigitte Gilbert Pascale Saugier-Veber Daniel Rabier Jean-Marie Saudubray Mireille Carré Françoise Parrot Rouleau Alain Menget Jean-Michel Bonardi Stanislas Lyonnet Jean-Paul Bonnefont Arnold Munnich |
| Affiliation: | 1. Département de Pédiatrie, Département de Biologie et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Institut Necker, Hǒpital des Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France;2. Hǒpital Pellegrin, 33000 Bordeaux, France;3. Centre Hospitalier, 25000 Besançon, France;4. Centre Hospitalier, 72000 Le Mans, France |
| Abstract: | Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency. |
| Keywords: | Ornithine transcarbamylase deficiency urea cycle deletion |