A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation. Issue 49 (9th December 2022)

• Record Type: Journal Article
• Authors: Wang, Yuan; Kang, Chao; Tong, Qiang; Wang, Hui; Zhang, Rui; Qiao, Qiao; Sang, Qian; Wang, Xiaocui; Wang, Jian; Xu, Jing
• Is Part Of: Medicine. Volume 101:Issue 49(2022)
• Page Start: e32139
• Publication Date: 2022-12-09
• Subjects: ABCC8 gene -- case reports -- missense mutation -- MODY -- p.Glu1326Lys; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000032139
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract : Rationale: Maturity 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 concerns: The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose. Diagnoses: The patient was diagnosed with MODY12. Interventions: The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight. Outcomes: The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight. Lessons: A 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.