Published online Feb 26, 2022. doi: 10.12998/wjcc.v10.i6.1909
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
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.
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.
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.