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7/11/2022 8:36:01 AM | Browse: 226 | Download: 439
Publication Name World Journal of Clinical Cases
Manuscript ID 73709
Country China
Received
2021-12-04 08:19
Peer-Review Started
2021-12-04 08:21
To Make the First Decision
Return for Revision
2022-01-25 07:55
Revised
2022-01-27 13:27
Second Decision
2022-05-24 03:20
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-05-28 06:50
Articles in Press
2022-05-28 06:50
Publication Fee Transferred
Edit the Manuscript by Language Editor
2022-06-08 04:01
Typeset the Manuscript
2022-06-17 00:51
Publish the Manuscript Online
2022-07-11 08:36
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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/
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Endocrinology & Metabolism
Manuscript Type Case Report
Article Title Novel SLC12A3 compound heterozygous mutation in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review
Manuscript Source Unsolicited Manuscript
All Author List Yong-Zhang Qin, Yan-Ming Liu, Yang Wang, Cong You, Long-Nian Li, Xue-Yan Zhou, Wei-Min Lv, Shi-Hua Hong and Li-Xia Xiao
ORCID
Author(s) ORCID Number
Yong-Zhang Qin http://orcid.org/0000-0002-8148-0864
Yan-Ming Liu http://orcid.org/0000-0002-3430-2635
Yang Wang http://orcid.org/0000-0002-6260-8033
Cong You http://orcid.org/0000-0002-0314-5884
Long-Nian Li http://orcid.org/0000-0002-3441-037X
Xue-Yan Zhou http://orcid.org/0000-0001-5601-6093
Wei-Min Lv http://orcid.org/0000-0002-7399-382X
Shi-Hua Hong http://orcid.org/0000-0002-5054-671X
Li-Xia Xiao http://orcid.org/0000-0002-4902-9360
Funding Agency and Grant Number
Funding Agency Grant Number
Science and Technology Plan of Health Commission of Jiangxi Province 202130648
Science and Technology Research Project of Department of Education of Jiangxi Province GJJ201522
Corresponding Author Li-Xia Xiao, MD, Associate Chief Physician, Department of Endocrinology, The First Affiliated Hospital of Gannan Medical University, No. 128 Jinling Road, Ganzhou 341000, Jiangxi Province, China. xlx981107@163.com
Key Words SLC12A3; Gitelman syndrome; Hyperthyroidism; Hypokalemia; Gene sequencing; Case report
Core Tip In the present study, we report a patient with hyperthyroidism who was diagnosed with Gitelman syndrome (GS) through genome sequencing. We identified a novel compound heterozygous mutation in SLC12A3. Protein molecular modeling was performed to predict the effects of the identified missense mutations, which cause changes in protein structure and may result in abnormal protein function. All previously reported cases of GS coexisting with autoimmune thyroid disease were reviewed.
Publish Date 2022-07-11 08:36
Citation Qin YZ, Liu YM, Wang Y, You C, Li LN, Zhou XY, Lv WM, Hong SH, Xiao LX. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review. World J Clin Cases 2022; 10(21): 7483-7494
URL https://www.wjgnet.com/2307-8960/full/v10/i21/7483.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i21.7483
Full Article (PDF) WJCC-10-7483.pdf
Full Article (Word) WJCC-10-7483.docx
Manuscript File 73709_Auto_Edited-LS_WangTQ.docx
Answering Reviewers 73709-Answering reviewers.pdf
Audio Core Tip 73709-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 73709-Conflict-of-interest statement.pdf
Copyright License Agreement 73709-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 73709-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 73709-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 73709-Language certificate.pdf
Peer-review Report 73709-Peer-review(s).pdf
Scientific Misconduct Check 73709-Bing-Wang JJ-2.png
Scientific Editor Work List 73709-Scientific editor work list.pdf