Novel gene mutation in maturity-onset diabetes of the young:A case report

作     者：Na Zhang Hui Zhao Cui Li Feng-Zhi Zhang 

作者机构：Department of EndocrinologyLiaocheng Third People's HospitalLiaocheng 252000Shandong ProvinceChina Department of EndocrinologyBinzhou Central HospitalBinzhou 251700Shandong ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2023年第11卷第5期

页      面：1099-1105页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Maturity-onset diabetes of the young MODY7 KLF11 gene mutation Precise treatment Case report 

摘      要：BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common monogenic type of ***,14 gene mutations have been found to be associated with *** addition,the KLF11 gene mutation is the pathogenic gene of *** date,the clinical and functional characteristics of the novel KLF11mutation c.G31A have not yet been *** SUMMARY We report of a 30-year-old male patient with a one-year history of nonketosisprone diabetes and a 3-generation family history of *** patient was found to carry a KLF11 gene ***,the clinical data of family members were collected and investigated.A total of four members of the family were found to have heterozygous mutations in the KLF11 gene c.G31A,which resulted in a change in the corresponding amino acid *** patients had diabetes mellitus,and one patient had impaired glucose *** The heterozygous mutation of the KLF11 gene c.G31A(p.D11N)is a new mutation site of ***,the main treatment included dietary interventions and oral drugs.