Grillone T, Menniti M, Bombardiere F, Vismara MFM, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. New SLC12A3 disease causative mutation of Gitelman’s syndrome. World J Nephrol 2016; 5(6): 551-555 [PMID: 27872838 DOI: 10.5527/wjn.v5.i6.551]
Corresponding Author of This Article
Rodolfo Iuliano, PhD, Department of Experimental and Clinical Medicine, University of Catanzaro, viale Europa, località Germaneto, 88100 Catanzaro, Italy. iuliano@unicz.it
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Nephrol. Nov 6, 2016; 5(6): 551-555 Published online Nov 6, 2016. doi: 10.5527/wjn.v5.i6.551
New SLC12A3 disease causative mutation of Gitelman’s syndrome
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao
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
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Nicola Perrotti, Department of Health Science, University of Catanzaro, 88100 Catanzaro, Italy
Stefania Belviso, Rodolfo Iuliano, Department of Experimental and Clinical Medicine, University of Catanzaro, 88100 Catanzaro, Italy
Author contributions: All the authors contributed to the paper.
Institutional review board statement: The study was reviewed and approved by the “Mater Domini” University Hospital Institutional Review Board.
Informed consent statement: All study participants provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All authors declare no conflicts of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Rodolfo Iuliano, PhD, Department of Experimental and Clinical Medicine, University of Catanzaro, viale Europa, località Germaneto, 88100 Catanzaro, Italy. iuliano@unicz.it
Telephone: +39-0961-3695182 Fax: +39-0961-3694090
Received: March 24, 2016 Peer-review started: April 15, 2016 First decision: May 16, 2016 Revised: July 28, 2016 Accepted: September 21, 2016 Article in press: September 22, 2016 Published online: November 6, 2016
Abstract
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.
Core tip: Mutations of SLC12A3 gene coding for the thiazide-sensitive NaCl cotrasporter are causative of Gitelman’s syndrome (GS), a tubulopathy transmitted by an autosomal recessive mechanism. This study identifies a new mutation of SLC12A3 in two cases of GS. Genetic evidence that this mutation is a disease causative of GS was also reported.
