| ISSN |
1948-9358 (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: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
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| Permissions |
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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 |
Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Huan Chen, Si-Jia Fei, Ming-Qun Deng, Xin-Da Chen, Wei-Hao Wang, Li-Xin Guo and Qi Pan |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
No. 82270881 |
|
| Corresponding Author |
Qi Pan, PhD, Doctor, Doctor, Department of Endocrinology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences,, No. 1 Dahua Road, Dongcheng Direction, Beijing 100730, China. panqi621@126.com |
| Key Words |
Maturity-onset diabetes of the young 10; Insulin gene; Ala2Thr mutation; Case report |
| Core Tip |
Maturity-onset diabetes of the young (MODY) 10 is uncommon, especially when caused by the c.4G > A (p.Ala2Thr) mutation, and thus, our knowledge of this disease is limited. Herein, we present an atypical MODY10 case resulting from the p.Ala2Thr mutation, which differs from previous reports and deviates from the prevalent phenotype of MODY. This patient exhibited insulin resistance and positive islet autoantibodies, as well as demonstrated significant familial inheritance and hearing impairment, which increased the potential for misdiagnosis. |
| Publish Date |
2023-12-14 09:36 |
| Citation |
Chen H, Fei SJ, Deng MQ, Chen XD, Wang WH, Guo LX, Pan Q. Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report. World J Diabetes 2023; 14(12): 1877-1884 |
| URL |
https://www.wjgnet.com/1948-9358/full/v14/i12/1877.htm |
| DOI |
https://dx.doi.org/10.4239/wjd.v14.i12.1877 |
