title: A pseudo-dominant form of Gitelman's syndrome.
abstract: Gitelman's syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over two generations suggesting a dominant transmission. After SLC12A3 sequencing of seven individuals, four mutations were detected. Pseudo-dominant transmission was explained by the union of a compound heterozygous woman (two mutations on one allele and one mutation on the other) with a heterozygous healthy man. This study shows the importance of complete genetic analysis of families with unusual presentation.
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Physiology, Hôpital Européen Georges Pompidou, Paris, France ; University Paris Descartes, Faculty of Medicine, Paris, France.
authors.forename: Renaud
authors.initials: R
authors.lastname: de La Faille
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Physiology, Hôpital Européen Georges Pompidou, Paris, France ; University Paris Descartes, Faculty of Medicine, Paris, France.
authors.forename: Marion
authors.initials: M
authors.lastname: Vallet
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France.
authors.forename: Annabelle
authors.initials: A
authors.lastname: Venisse
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Nau
authors.affiliation: Department of Endocrinology and Diabetology, Hôpital André Mignot, Le Chesnay, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Collet-Gaudillat
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Physiology, Hôpital Européen Georges Pompidou, Paris, France ; University Paris Descartes, Faculty of Medicine, Paris, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Houillier
authors.affiliation: University Paris Descartes, Faculty of Medicine, Paris, France ; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France ; INSERM, UMRS-970, Paris Cardiovascular Research Center, Paris, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Jeunemaitre
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France ; INSERM, UMRS-970, Paris Cardiovascular Research Center, Paris, France.
authors.forename: Rosa
authors.initials: R
authors.lastname: Vargas-Poussou
keywords: Gitelman syndrome; mutation in cis; mutation in trans; pseudo-dominant inheritance