biostudies-literatureUnknown101(49)Wang Y<h4>Rationale</h4>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.<h4>Patient concerns</h4>The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.<h4>Diagnoses</h4>The patient was diagnosed with MODY12.<h4>Interventions</h4>The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.<h4>Outcomes</h4>The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.<h4>Lessons</h4>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.Medicinee32139https://www.ebi.ac.uk/biostudies/studies/S-EPMC9750649biostudies-literatureA case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.PMC9750649Tong QSang QKang CQiao QWang HWang XWang YZhang RWang JXu JfalseA case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.<h4>Rationale</h4>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.<h4>Patient concerns</h4>The patient was a 30-year-old Chinese Han man. He was overweight with a poor control of blood glucose.<h4>Diagnoses</h4>The patient was diagnosed with MODY12.<h4>Interventions</h4>The patient was given glimepiride (4 mg/d) with diet and exercise therapy to reduce blood glucose and weight.<h4>Outcomes</h4>The level of fasting blood glucose and C-peptide was improved after 1 year treatment as well as body weight.<h4>Lessons</h4>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.2022-01-01T00:00:00Z2022 Dec2025-04-19T20:50:51.212Z2025-04-19T20:50:51.212ZS-EPMC97506493662642310.1097/MD.0000000000032139