• Medicine · Sep 2022

    Case Reports

    A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

    • Xinjie Song, Yonghong Cao, Jun Ye, Wu Dai, Suwan Zhang, and Shuai Ye.
    • Department of Endocrinology, Second People's Hospital of Hefei City, Hefei City, Anhui Province, China.
    • Medicine (Baltimore). 2022 Sep 30; 101 (39): e30668e30668.

    IntroductionMaturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene.Case PresentationA pair of father and son was examined after admission to the hospital and a whole exome test performed. Whole exome test showed that there was a mutation c.685G>A:p.E229K in the KCNJ11 gene encoding a potassium channel, KCNJ11.ConclusionsThe diagnosis of MODY13 requires genetic testing. After confirmation, medication and diet need to be adjusted to control blood glucose. The treatment plan was adjusted. After glimepiride was administered, symptoms of diabetes were effectively improved. According to our knowledge, this is the first reported mutation of c.685G>A:p.E229K in the KCNJ11 gene.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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