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 [PMID: 38222789 DOI: 10.4239/wjd.v14.i12.1877]
Corresponding Author of This Article
Qi Pan, PhD, 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
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Huan Chen, Si-Jia Fei, Ming-Qun Deng, Xin-Da Chen, Wei-Hao Wang, Li-Xin Guo, Qi Pan, Department of Endocrinology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China
Huan Chen, Si-Jia Fei, Qi Pan, Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China
Author contributions: Chen H was in contact with the patient and wrote the manuscript; Fei SJ, Chen XD, and Wang WH edited specific sections of the manuscript; Deng MQ, Guo LX, and Pan Q reviewed the literature; all authors have read and approved the final manuscript; all listed authors meet the requirements for authorship.
Supported byNational Natural Science Foundation of China, No. 82270881.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Qi Pan, PhD, 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
Received: August 26, 2023 Peer-review started: August 26, 2023 First decision: October 9, 2023 Revised: October 19, 2023 Accepted: December 4, 2023 Article in press: December 4, 2023 Published online: December 15, 2023 Processing time: 109 Days and 22.3 Hours
Abstract
BACKGROUND
Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr) mutation is extremely rare, with only two reported studies to date. Herein, we report another case that differs from previous cases in phenotype.
CASE SUMMARY
The proband developed diabetes at the age of 27 years, despite having a normal body mass index (BMI). She exhibited partial impairment of islet function, tested positive for islet antibodies, and required high doses of insulin. Her sister also carried the c.4G>A (p.Ala2Thr) mutation, and their mother was strongly suspected to carry the mutated gene. Her sister developed diabetes around 40 years of age and required high doses of insulin, while the mother was diagnosed in her 20s and was managed with oral hypoglycemic agents; neither of them were obese.
CONCLUSION
p.Ala2Thr mutation carriers often experience relatively later onset and normal BMI. Treatment regimens vary between individuals.
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.
