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Articles Published Processes
9/28/2021 10:00:16 AM | Browse: 280 | Download: 394
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Received |
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2021-02-02 02:59 |
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Peer-Review Started |
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2021-02-02 03:00 |
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To Make the First Decision |
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Return for Revision |
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2021-06-15 05:36 |
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Revised |
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2021-06-18 02:29 |
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Second Decision |
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2021-08-16 03:29 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2021-08-16 04:53 |
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Articles in Press |
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2021-08-16 04:53 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-08-27 08:30 |
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Typeset the Manuscript |
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2021-09-22 01:38 |
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Publish the Manuscript Online |
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2021-09-28 10:00 |
| 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 |
Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Tang-Li Xiao, Jun Zhang, Li Liu and Bo Zhang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
81500561 |
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| Corresponding Author |
Bo Zhang, PhD, Professor, Department of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), No. 83 Xinqiao Street, Shapingba District, Chongqing 400037, China. bo_zhang@tmmu.edu.cn |
| Key Words |
Renal cysts and diabetes; Hepatocyte nuclear factor 1B; Exome sequencing; Novel mutation; Autosomal dominant disorder; Case report |
| Core Tip |
Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant disorder of diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and selecting optimal therapy. A novel deletion mutation of hepatocyte nuclear factor 1B gene (NM_000458: c.882_888del, p.V294fs) was identified in a Chinese family with RCAD syndrome by whole exome sequencing and Sanger sequencing. Considering the gene function and the genotype-phenotype correlation, mutation location and its conservativeness, this mutation is considered to play a pathogenic role in the development of RCAD syndrome. |
| Publish Date |
2021-09-28 10:00 |
| Citation |
Xiao TL, Zhang J, Liu L, Zhang B. Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report. World J Clin Cases 2021; 9(28): 8461-8469 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i28/8461.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i28.8461 |
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