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
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 MOD...
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| Format: | Article |
| Language: | zho |
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Chinese General Practice Publishing House Co., Ltd
2023-06-01
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| Series: | Zhongguo quanke yixue |
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| Online Access: | https://www.chinagp.net/fileup/1007-9572/PDF/zx2020717.pdf |
| Summary: | 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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| ISSN: | 1007-9572 |