MTNR1B基因突变合并胰岛素受体基因突变1例家系报道
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1.无锡市惠山区人民医院;2.南京医科大学第一附属医院

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A family report of a case of MTNR1B gene mutation combined with insulin receptor gene mutation
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    摘要:

    糖尿病是一组以慢性血糖升高为特征的代谢性疾病,是由包括遗传和环境因素在内的多种综合因素引起,其病因和发病机制尚未完全阐明。近年来,随着基因诊断技术的发展,越来越多与糖尿病相关的基因被发现,从而为临床上认识和治疗糖尿病提供了新的研究方向。我院发现了1个褪黑激素受体1B(MTNR1B)基因突变合并胰岛素受体(INSR)基因突变的家系,两个突变位点是否存在相关性目前尚不明确,但值得临床关注。

    Abstract:

    Diabetes is a group of metabolic diseases characterized by chronic blood sugar elevation. It is caused by multiple comprehensive factors, including genetic and environmental factors. Its etiology and pathogenesis have not been fully elucidated. In recent years, with the development of genetic diagnosis technology, more and more genes related to diabetes have been discovered, which provides a new research direction for clinical understanding and treatment of diabetes. Our hospital found a family with melatonin receptor 1B (MTNR1B) gene mutation and insulin receptor (INSR) gene mutation. Whether there is a correlation between the two mutation sites is still unclear, but it is worth clinical attention.

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历史
  • 收稿日期:2023-04-12
  • 最后修改日期:2023-07-15
  • 录用日期:2023-10-25
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