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一个新的 RFX6 杂合突变（p.R652X）导致成年发病型糖尿病：一个病例报告。

A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.

机构信息

Faculty of Medicine, Gifu University, Gifu, Japan.

Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu, Japan.

出版信息

J Diabetes Investig. 2021 Oct;12(10):1914-1918. doi: 10.1111/jdi.13545. Epub 2021 Apr 9.

DOI:10.1111/jdi.13545
PMID:33721395
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8504905/
Abstract

Heterozygous RFX6 mutation has emerged as a potential cause of maturity-onset diabetes mellitus of the young (MODY). A 16-year-old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin, glucose-dependent insulinotropic polypeptide, and glucagon-like peptide-1, which is consistent with the phenotype of MODY due to heterozygous RFX6 mutation. In conclusion, we report a case of MODY due to a novel heterozygous mutation, p.R652X.

摘要

杂合性 RFX6 突变已成为青年发病成年型糖尿病（MODY）的一个潜在病因。一位 16 岁的女性被家庭医生诊断为糖尿病，并被转介到我们的机构进行基因检查。基因检测显示患者及其母亲和哥哥均存在 RFX6 杂合性突变（NM_173560：exon17：c.1954C>T：p.R652X）。患者无胰岛特异性自身抗体，且胰岛素、葡萄糖依赖性胰岛素释放肽和胰高血糖素样肽-1 的餐时反应降低，这与杂合性 RFX6 突变导致的 MODY 表型一致。总之，我们报告了一例由新型杂合性突变 p.R652X 引起的 MODY 病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a29/8504905/c190b71690e0/JDI-12-1914-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a29/8504905/bc77092e4f8a/JDI-12-1914-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a29/8504905/c190b71690e0/JDI-12-1914-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a29/8504905/bc77092e4f8a/JDI-12-1914-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a29/8504905/c190b71690e0/JDI-12-1914-g003.jpg

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