Wang CL. Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. World J Clin Cases 2019; 7(12): 1522-1528 [PMID: 31363482 DOI: 10.12998/wjcc.v7.i12.1522]
Corresponding Author of This Article
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
Research Domain of This Article
Medicine, Research & Experimental
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 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
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.
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.
