Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2019; 7(12): 1522-1528
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1522
Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
Cheng-Lin Wang
Cheng-Lin Wang, Department of Endocrinology, Shanxi Provincial People’s Hospital Affiliated to Shanxi Medical University, Taiyuan 030012, Shanxi Province, China
Author contributions: Wang CL designed the research, performed the research, analyzed the data, and wrote the paper.
Informed consent statement: Consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: I declare that I have no conflicts of interest to this work. I declare that I do not have any commercial or associative interest that represents a conflict of interest in connection with the work submitted.
CARE Checklist (2016) statement: I have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Cheng-Lin Wang, MBChB, Attending Doctor, Department of Endocrinology, Shanxi Provincial People's Hospital Affiliated to Shanxi Medical University, Shuangta Street No. 29, Taiyuan 030012, Shanxi Province, China. w15834147610@sina.com
Telephone: +86-351-4960140 Fax: +86-351-4960140
Received: January 26, 2019
Peer-review started: January 28, 2019
First decision: March 9, 2019
Revised: March 20, 2019
Accepted: April 18, 2019
Article in press: May 2, 2019
Published online: June 26, 2019
Processing time: 152 Days and 3.2 Hours
Core Tip

Core tip: To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between the genotype and phenotype. Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease.