| 胰岛素受体底物2基因突变可能与青少年起病的成人型糖尿病有关：一例报道及其遗传学分析 |
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| 引用本文： | 任玉梅,许敏,叶梅蕾,章秋,胡红琳.胰岛素受体底物2基因突变可能与青少年起病的成人型糖尿病有关：一例报道及其遗传学分析[J].中国全科医学,2023,26(18):2301-2305. |
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| 作者姓名： | 任玉梅 许敏 叶梅蕾 章秋 胡红琳 |
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| 作者单位： | 1．230022 安徽省合肥市，安徽医科大学第一附属医院内分泌科2．245699 安徽省黄山市祁门县人民医院内分泌科 |
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| 基金项目： | 安徽省科技厅公益性联动基金(1704F0804026) |
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| 摘 要： | 青少年起病的成人型糖尿病（MODY）是一类以胰岛β细胞功能障碍为特征的、有较高遗传异质性的单基因遗传糖尿病。截至2022年8月，已发现14种明确的MODY致病基因。本文报道了1例疑似MODY患者，通过外显子组测序鉴定了1个胰岛素受体底物2(IRS2)基因突变，并在患者11名家系成员中进行了验证，提出IRS2基因是一个新的MODY候选致病基因，为MODY的诊断和治疗提供更多的参考资料。
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| 关 键 词： | 糖尿病 青少年起病的成人型糖尿病 胰岛素受体底物2 过氧化物酶体增殖物激活受体 基因突变 基因诊断 系谱分析 |
| 收稿时间： | 2022-10-12 |
A Mutation in the Insulin Receptor Substrate 2 Gene May Be Associated with Maturity-onset Diabetes of the Young: a Case Report with Genetic Analysis |
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| REN Yumei,XU Min,YE Meilei,ZHANG Qiu,HU Honglin.A Mutation in the Insulin Receptor Substrate 2 Gene May Be Associated with Maturity-onset Diabetes of the Young: a Case Report with Genetic Analysis[J].Chinese General Practice,2023,26(18):2301-2305. |
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| Authors: | REN Yumei XU Min YE Meilei ZHANG Qiu HU Honglin |
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| Institution: | 1. Department of Endocrinology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China2. Department of Endocrinology, Qimen People's Hospital, Huangshan 245699, China |
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| Abstract: | Maturity-onset diabetes of the young (MODY) belongs to a kind of monogenic diabetes characterized by pancreatic β-cell dysfunction and high level of genetic heterogeneity. As of August 2022, 14 genes responsible for MODY have been identified clearly. In this paper, a case of suspected MODY was reported. A mutation in the insulin receptor substrate 2 (IRS2) gene was identified by exome sequencing, and also found in 11 family members of the patient. It is proposed that IRS2 gene may be a new candidate gene for MODY, informing the diagnosis and treatment of MODY. |
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| Keywords: | Diabetes mellitus Maturity-onset diabetes of the young Insulin receptor substrate 2 Peroxisome proliferator activated receptor Gene mutation Gene diagnosis Pedigree analysis |
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