• Yuan Wang, Chao Kang, Qiang Tong, Hui Wang, Rui Zhang, Qiao Qiao, Qian Sang, Xiaocui Wang, Jian Wang, and Jing Xu.
• Department of Endocrinology, Xinqiao Hospital, Army Medical University, Chongqing, China.
• Medicine (Baltimore). 2022 Dec 9; 101 (49): e32139e32139.

RationaleMaturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12.Patient ConcernsThe patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.DiagnosesThe patient was diagnosed with MODY12.InterventionsThe patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.OutcomesThe level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.LessonsA Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

23 keywords...

hide…