title: NewSLC12A3disease causative mutation of Gitelman's syndrome.
abstract: Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations ofSLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation ofSLC12A3found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyper-reninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation (c.2581 C > T) and a new one (c.283delC) inSLC12A3gene. The new mutation results in a possible frame-shift with a premature stop-codon (pGln95ArgfsX19). The parents of the patients, heterozygous carriers of the mutations found inSLC12A3, have no disease associated phenotype. Therefore, the new mutation is causative of GS.
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Grillone
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Miranda
authors.initials: M
authors.lastname: Menniti
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Bombardiere
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Marco Flavio Michele
authors.initials: MF
authors.lastname: Vismara
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Belviso
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Fabiani
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Perrotti
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Iuliano
authors.affiliation: Teresa Grillone, Francesco Bombardiere, Marco Flavio Michele Vismara, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao, Medical Genetics Unit of "Mater Domini" University Hospital, University of Catanzaro, 88100 Catanzaro, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Colao
keywords: Frame-shift mutation; Gitelman’s syndrome; SLC12A3 gene; Thiazide-sensitive NaCl cotransporter; Tubulopathy