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Articles Published Processes
12/10/2021 7:13:37 AM | Browse: 297 | Download: 803
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Received |
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2021-07-01 10:13 |
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Peer-Review Started |
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2021-07-01 10:16 |
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To Make the First Decision |
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Return for Revision |
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2021-07-26 07:38 |
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Revised |
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2021-08-09 15:27 |
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Second Decision |
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2021-10-27 09:17 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-10-27 21:17 |
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Articles in Press |
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2021-10-27 21:17 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2021-12-01 02:09 |
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Publish the Manuscript Online |
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2021-12-10 07:13 |
| 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) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ka-Na Wang, Qing-Qing Chen, Yi-Lin Zhu and Chun-Lin Wang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| the key Research and Development Program of Zhejiang Province |
2020C03121 |
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| Corresponding Author |
Chun-Lin Wang, MD, MHSc, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, No. 1367 Wenyi West Road, Hangzhou 310000, Zhejiang Province, China. hzwangcl@zju.edu.cn |
| Key Words |
Androgen insensitivity syndrome; 46 XY disorders of sex development; Variants; Androgen receptor gene; Ligand-binding domain; Case report |
| Core Tip |
A hemizygous variant c.2678C>T (p.P893L) was found in the Ligand-binding domain of the AR gene in a Chinese family affected with complete androgen insensitivity syndrome (CAIS). Online prediction tools were used to predict the disease-causing potential of this variant. Structural analysis revealed that the amino acid substitution affected protein properties, and in vitro functional studies showed the nuclear translocation ability of the mutant protein to be impaired. CAIS in this family was concluded to be caused by the c.2678C>T variant, whose pathogenesis resulting in an androgen insensitivity syndrome phenotype may be related to decreased nuclear translocation. |
| Publish Date |
2021-12-10 07:13 |
| Citation |
Wang KN, Chen QQ, Zhu YL, Wang CL. Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report. World J Clin Cases 2021; 9(35): 11036-11042 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i35/11036.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i35.11036 |
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