Xu Q, Kan CX, Hou NN, Sun XD. Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report. World J Clin Cases 2022; 10(6): 1909-1913 [PMID: 35317157 DOI: 10.12998/wjcc.v10.i6.1909]
Corresponding Author of This Article
Xiao-Dong Sun, MD, PhD, Associate Chief Physician, Department of Endocrinology and Metabolism, Clinical Research Center, The Affiliated Hospital of Weifang Medical University, No. 2428 Yu-he Road, Weifang 261031, Shandong Province, China. xiaodong.sun@wfmc.edu.cn
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/
World J Clin Cases. Feb 26, 2022; 10(6): 1909-1913 Published online Feb 26, 2022. doi: 10.12998/wjcc.v10.i6.1909
Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report
Qian Xu, Cheng-Xia Kan, Ning-Ning Hou, Xiao-Dong Sun
Qian Xu, Cheng-Xia Kan, Ning-Ning Hou, Xiao-Dong Sun, Department of Endocrinology and Metabolism, Clinical Research Center, The Affiliated Hospital of Weifang Medical University, Weifang 261031, Shandong Province, China
Author contributions: Xu Q and Kan CX contributed to the data curation, investigation. writing-original draft preparation; Hou NN contributed to the methodology, investigation, writing-reviewing and editing; Sun XD contributed to the supervision, writing-reviewing and editing, funding acquisition.
Supported byNational Natural Science Foundation of China, No. 81870593 and No. 82170865; and Quality Improvement of Postgraduate Education in Shandong Province, No. SDYAL19156.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Dong Sun, MD, PhD, Associate Chief Physician, Department of Endocrinology and Metabolism, Clinical Research Center, The Affiliated Hospital of Weifang Medical University, No. 2428 Yu-he Road, Weifang 261031, Shandong Province, China. xiaodong.sun@wfmc.edu.cn
Received: July 28, 2021 Peer-review started: July 28, 2021 First decision: October 25, 2021 Revised: October 26, 2021 Accepted: January 14, 2022 Article in press: January 14, 2022 Published online: February 26, 2022 Processing time: 210 Days and 13.7 Hours
Abstract
BACKGROUND
Maturity-onset diabetes of the young 3 (MODY3), caused by mutations in the HNF1A gene, is the most common subtype of MODY. The diagnosis of MODY3 is critical because a low dose of sulfonylurea agents can achieve glucose control.
CASE SUMMARY
We describe a patient with MODY3 involving a novel splicing mutation, in whom low-dose gliclazide was sufficient to control clinically significant hyperglycemia. Sanger sequencing identified a splicing HNF1A mutation in 12q24 NM_000545.5 Intron5 c.1108-1G>A. Glycemic control has been maintained without insulin therapy for 28 mo after the diagnosis of diabetes.
CONCLUSION
This case report highlights a novel HNF1A gene mutation in MODY3 that is responsive to sulfonylurea therapy.
Core Tip: We describe a patient with maturity-onset diabetes of the young 3 caused by a splicing mutation in intron 5 at position 24 of chromosome 12, where the base sequence was replaced from G to A, and the protein encoded was changed accordingly. Excellent blood glucose control can be achieved by using low-dose sulfonylureas.
