Publication Name	World Journal of Clinical Cases
Manuscript ID	45831
Country	China

Category	Medicine, Research & Experimental
Manuscript Type	Case Report
Article Title	Novel heterozygous missense mutation of <i>SLC12A3</i> gene in Gitelman syndrome: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Cheng-Lin Wang
Funding Agency and Grant Number
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
Key Words	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 genotype and phenotype. Sequencing showed a novel homozygous 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 occurrence of disease.
Citation	Wang CL. Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. World J Clin Cases 2019; 7(12): 1522-1528

Received	2019-01-26 01:12
Peer-Review Started	2019-01-28 06:27
To Make the First Decision	2019-03-14 00:23
Return for Revision	2019-03-14 01:19
Revised	2019-03-20 02:07
Second Decision	2019-04-18 10:21
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2019-04-19 01:51
Articles in Press	2019-04-19 01:51
Publication Fee Transferred
Edit the Manuscript by Language Editor	2019-04-26 17:04
Typeset the Manuscript	2019-06-24 01:52

ISSN	2307-8960 (online)
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