Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Dec 15, 2023; 14(12): 1877-1884
Published online Dec 15, 2023. doi: 10.4239/wjd.v14.i12.1877
Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report
Huan Chen, Si-Jia Fei, Ming-Qun Deng, Xin-Da Chen, Wei-Hao Wang, Li-Xin Guo, Qi Pan
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 by National 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
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.

Keywords: 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.