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
Abstract
BACKGROUND

To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.

CASE SUMMARY

The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease.

CONCLUSION

This is the first report of a new pathogenic mutation in SLC12A3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

Keywords: Gitelman syndrome, SLC12A3, High-throughput sequencing, Bioinformatics analysis, Case report

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.