New SLC12A3 disease causative mutation of Gitelman's syndrome.

Autor:	Grillone T; 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., Menniti M; 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., Bombardiere F; 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., Vismara MF; 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., Belviso S; 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., Fabiani F; 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., Perrotti N; 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., Iuliano R; 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., Colao E; 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.
Jazyk:	angličtina
Zdroj:	World journal of nephrology [World J Nephrol] 2016 Nov 06; Vol. 5 (6), pp. 551-555.
DOI:	10.5527/wjn.v5.i6.551
Abstrakt:	Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3 , which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found 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) in SLC12A3 gene. 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 in SLC12A3 , have no disease associated phenotype. Therefore, the new mutation is causative of GS. Competing Interests: Conflict-of-interest statement: All authors declare no conflicts of interest.
Databáze:	MEDLINE
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