Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as...

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Autores principales: Abe, Yuki, Yamamoto, Toshiyuki, Izumita, Yukie, Tsukano, Shinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253428/
https://www.ncbi.nlm.nih.gov/pubmed/32528714
http://dx.doi.org/10.1038/s41439-020-0104-4
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author Abe, Yuki
Yamamoto, Toshiyuki
Izumita, Yukie
Tsukano, Shinya
author_facet Abe, Yuki
Yamamoto, Toshiyuki
Izumita, Yukie
Tsukano, Shinya
author_sort Abe, Yuki
collection PubMed
description Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.
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spelling pubmed-72534282020-06-10 Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion Abe, Yuki Yamamoto, Toshiyuki Izumita, Yukie Tsukano, Shinya Hum Genome Var Data Report Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion. Nature Publishing Group UK 2020-05-27 /pmc/articles/PMC7253428/ /pubmed/32528714 http://dx.doi.org/10.1038/s41439-020-0104-4 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Abe, Yuki
Yamamoto, Toshiyuki
Izumita, Yukie
Tsukano, Shinya
Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title_full Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title_fullStr Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title_full_unstemmed Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title_short Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
title_sort gitelman syndrome caused by a novel hemiallelic missense mutation in slc12a3 revealed by 16q12.2q21 microdeletion
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253428/
https://www.ncbi.nlm.nih.gov/pubmed/32528714
http://dx.doi.org/10.1038/s41439-020-0104-4
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