Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 16, 2023; 11(5): 1099-1105
Published online Feb 16, 2023. doi: 10.12998/wjcc.v11.i5.1099
Novel gene mutation in maturity-onset diabetes of the young: A case report
Na Zhang, Hui Zhao, Cui Li, Feng-Zhi Zhang
Na Zhang, Cui Li, Feng-Zhi Zhang, Department of Endocrinology, Liaocheng Third People's Hospital, Liaocheng 252000, Shandong Province, China
Hui Zhao, Department of Endocrinology, Binzhou Central Hospital, Binzhou 251700, Shandong Province, China
Author contributions: Zhang N and Zhang FZ were involved in the study design; Li C and Zhang N contributed to data collection and analysis; original draft preparations were conducted by all authors; Zhang N and Zhao H drafted and revised the manuscript; all authors have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Na Zhang, Doctor, MSc, Associate Chief Physician, Department of Endocrinology, Liaocheng Third People's Hospital, No. 62 Weiyu Road, Liaocheng 252000, Shandong Province, China. zhangna8083@163.com
Received: September 24, 2022
Peer-review started: September 24, 2022
First decision: December 13, 2022
Revised: December 20, 2022
Accepted: January 19, 2023
Article in press: January 19, 2023
Published online: February 16, 2023
Processing time: 143 Days and 3.5 Hours
Abstract
BACKGROUND

Maturity-onset diabetes of the young (MODY) is the most common monogenic type of diabetes. Recently, 14 gene mutations have been found to be associated with MODY. In addition, the KLF11 gene mutation is the pathogenic gene of MODY7. To date, the clinical and functional characteristics of the novel KLF11 mutation c. G31A have not yet been reported.

CASE SUMMARY

We report of a 30-year-old male patient with a one-year history of nonketosis-prone diabetes and a 3-generation family history of diabetes. The patient was found to carry a KLF11 gene mutation. Therefore, the clinical data of family members were collected and investigated. A total of four members of the family were found to have heterozygous mutations in the KLF11 gene c. G31A, which resulted in a change in the corresponding amino acid p.D11N. Three patients had diabetes mellitus, and one patient had impaired glucose tolerance.

CONCLUSION

The heterozygous mutation of the KLF11 gene c.G31A (p. D11N) is a new mutation site of MODY7. Subsequently, the main treatment included dietary interventions and oral drugs.

Keywords: Maturity-onset diabetes of the young, MODY7, KLF11 gene mutation, Precise treatment, Case report

Core Tip: We describe a patient with maturity-onset diabetes of the young 7 caused by KLF11 mutation (NM_003597), where the mutation of nucleotide 31 was replaced from guanine to adenine in the coding region, and p.D11N was the mutation of amino acid 11 from aspartic acid to asparagine. Excellent blood glucose control can be achieved by using metformin.