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Case Reports
. 2022 Feb 26;10(6):1909-1913.
doi: 10.12998/wjcc.v10.i6.1909.

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

Qian Xu  1 , Cheng-Xia Kan  1 , Ning-Ning Hou  1 , Xiao-Dong Sun  2
Affiliations
Case Reports

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

Qian Xu et al. World J Clin Cases. .

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.

Keywords: Case report; Diabetes; Genetics; HNF1A; Maturity-onset diabetes of the young.

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Conflict of interest statement

Conflict-of-interest statement: The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Sanger sequencing identified an HNF1A splicing mutation in 12q24 NM_000545.5 Intron5 c.1108-1G>A.
See this image and copyright information in PMC

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