Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report.

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.

• Authors: Qian Xu, Cheng-Xia Kan, Ning-Ning Hou, Xiao-Dong Sun
• Journal: World journal of clinical cases (World J Clin Cases) Vol. 10 Issue 6 Pg. 1909-1913 (Feb 26 2022) ISSN: 2307-8960 [Print] United States
• PMID: 35317157 (Publication Type: Case Reports)
• Copyright: ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.