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已发表论文
中国儿童 2 型青少年糖尿病（MODY2）患者的 GCK 基因突变分析及临床特征：对筛查和诊断的启示
Authors Su C, Piao Y, Chen C, Miao Y, Wu D, Sang Y
Received 15 May 2025
Accepted for publication 7 October 2025
Published 13 October 2025 Volume 2025:16 Pages 289—296
DOI https://doi.org/10.2147/PHMT.S537441
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Professor Roosy Aulakh
Chang Su,1,* Yurong Piao,2,* Congli Chen,1 Yuqi Miao,1 Di Wu,1 Yanmei Sang1
1Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China; 2Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
*These authors contributed equally to this work
Correspondence: Yanmei Sang, Email sangym_doc@126.com
Objective: To investigate the clinical and genetic features of maturity onset diabetes of the young type 2 (MODY 2) in Chinese pediatric patients and optimize the screening strategy.
Methods: A total of 11 Chinese pediatric patients diagnosed with MODY2 were enrolled in this study. Detailed clinical data and follow-up outcomes were retrospectively collected and summarized. Genetic testing was conducted using next-generation sequencing (NGS), and all identified variations were verified by Sanger sequencing.
Results: All cases carried heterozygous mutations in the GCK gene. 9 pathogenic variations were identified, including 8 missense mutations, 1 frameshift mutation, and 1 splice-site mutation. Among these, the mutation c.456T>G was novel. The mean age at diagnosis was 8.1± 2.7 (years). 10 of 11 cases had a family history of hyperglycemia or diabetes. 2 cases were overweight. Patients exhibited mild hyperglycemia. The median HbA1c was 6.3% (interquartile range [IQR]: 6.3%– 6.4%). Glucose increment in OGTT was 1.68± 0.95 mmol/L. Mean triglyceride level was 0.62± 0.15 mmol/L. Two cases were positive for insulin antibodies. All cases were treated with a balanced diet after diagnosis. The follow-up period was 1.5– 7 years, and the median HbA1c was 6.3% (IQR: 6.2%– 6.4%).
Conclusion: MODY2 typically manifests with mild, stable fasting hyperglycemia and is predominantly caused by missense mutations in the GCK gene. Our findings support the inclusion of triglyceride levels as a screening marker and highlight that features like overweight status and autoantibody positivity may coexist in MODY2, warranting comprehensive evaluation to prevent misdiagnosis.
Keywords: maturity onset diabetes of the young type 2, monogenic diabetes, GCK gene, gene mutation
1Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China; 2Department of Rheumatology and Immunology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
*These authors contributed equally to this work
Correspondence: Yanmei Sang, Email sangym_doc@126.com
Objective: To investigate the clinical and genetic features of maturity onset diabetes of the young type 2 (MODY 2) in Chinese pediatric patients and optimize the screening strategy.
Methods: A total of 11 Chinese pediatric patients diagnosed with MODY2 were enrolled in this study. Detailed clinical data and follow-up outcomes were retrospectively collected and summarized. Genetic testing was conducted using next-generation sequencing (NGS), and all identified variations were verified by Sanger sequencing.
Results: All cases carried heterozygous mutations in the GCK gene. 9 pathogenic variations were identified, including 8 missense mutations, 1 frameshift mutation, and 1 splice-site mutation. Among these, the mutation c.456T>G was novel. The mean age at diagnosis was 8.1± 2.7 (years). 10 of 11 cases had a family history of hyperglycemia or diabetes. 2 cases were overweight. Patients exhibited mild hyperglycemia. The median HbA1c was 6.3% (interquartile range [IQR]: 6.3%– 6.4%). Glucose increment in OGTT was 1.68± 0.95 mmol/L. Mean triglyceride level was 0.62± 0.15 mmol/L. Two cases were positive for insulin antibodies. All cases were treated with a balanced diet after diagnosis. The follow-up period was 1.5– 7 years, and the median HbA1c was 6.3% (IQR: 6.2%– 6.4%).
Conclusion: MODY2 typically manifests with mild, stable fasting hyperglycemia and is predominantly caused by missense mutations in the GCK gene. Our findings support the inclusion of triglyceride levels as a screening marker and highlight that features like overweight status and autoantibody positivity may coexist in MODY2, warranting comprehensive evaluation to prevent misdiagnosis.
Keywords: maturity onset diabetes of the young type 2, monogenic diabetes, GCK gene, gene mutation