New SLC12A3 disease causative mutation of Gitelman’s syndrome

New SLC12A3 disease causative mutation of Gitelman’s syndrome

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, hypocalciuri...

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Main Authors: Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma
Format: Online
Language:English
Published: Baishideng Publishing Group Inc 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099602/
id pubmed-5099602
recordtype oai_dc
spelling pubmed-50996022016-11-21 New SLC12A3 disease causative mutation of Gitelman’s syndrome Grillone, Teresa Menniti, Miranda Bombardiere, Francesco Vismara, Marco Flavio Michele Belviso, Stefania Fabiani, Fernanda Perrotti, Nicola Iuliano, Rodolfo Colao, Emma Case Report 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. Baishideng Publishing Group Inc 2016-11-06 2016-11-06 /pmc/articles/PMC5099602/ /pubmed/27872838 http://dx.doi.org/10.5527/wjn.v5.i6.551 Text en ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ 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.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Grillone, Teresa
Menniti, Miranda
Bombardiere, Francesco
Vismara, Marco Flavio Michele
Belviso, Stefania
Fabiani, Fernanda
Perrotti, Nicola
Iuliano, Rodolfo
Colao, Emma
spellingShingle Grillone, Teresa
Menniti, Miranda
Bombardiere, Francesco
Vismara, Marco Flavio Michele
Belviso, Stefania
Fabiani, Fernanda
Perrotti, Nicola
Iuliano, Rodolfo
Colao, Emma
New SLC12A3 disease causative mutation of Gitelman’s syndrome
author_facet Grillone, Teresa
Menniti, Miranda
Bombardiere, Francesco
Vismara, Marco Flavio Michele
Belviso, Stefania
Fabiani, Fernanda
Perrotti, Nicola
Iuliano, Rodolfo
Colao, Emma
author_sort Grillone, Teresa
title New SLC12A3 disease causative mutation of Gitelman’s syndrome
title_short New SLC12A3 disease causative mutation of Gitelman’s syndrome
title_full New SLC12A3 disease causative mutation of Gitelman’s syndrome
title_fullStr New SLC12A3 disease causative mutation of Gitelman’s syndrome
title_full_unstemmed New SLC12A3 disease causative mutation of Gitelman’s syndrome
title_sort new slc12a3 disease causative mutation of gitelman’s syndrome
description 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.
publisher Baishideng Publishing Group Inc
publishDate 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099602/
_version_ 1613717199752527872

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