• Clin Med (Lond) · Mar 2024

    Case Reports

    A Novel Mutation in the ABCC8 Gene Causing Maturity-onset Diabetes of the Young: a Case Report.

    • Yifan Guo, Yangli Chen, Wen Liang, Lirong Zeng, Fang Hu, Yingjuan Zeng, and Li Cong.
    • Department of Endocrinology and Metabolism, The Fifth Affiliated Hospital Sun Yat-sen University, Zhuhai, Guangdong, China.
    • Clin Med (Lond). 2024 Mar 1; 24 (2): 100033100033.

    AbstractA 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.Copyright © 2024. Published by Elsevier Ltd.

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