两例新生儿高血糖症是由同卵性COQ9停止增益变体引起的
Russell Donis1, Maryam Al Badi2, Nadia Alhashmi3
1Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Journal of diabetes investigation
|March 10, 2025
概括
新生儿糖尿病可能是由COQ9基因变异引起的,导致高血糖和其他严重症状. 新生儿糖尿病遗传检测小组应包括COQ9,COQ2和COQ4.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 线粒体生物学 线粒体生物学
背景情况:
- 新生儿糖尿病 (NDM) 是一种罕见的遗传疾病,在6个月前被诊断为糖尿病.
- 已知有40多种遗传原因,遗传检测对于指导临床管理至关重要.
- 由COQ2和COQ4等基因变异引起的辅酶Q10 (CoQ10) 缺乏障碍,可能会出现新生儿高血糖症.
研究的目的:
- 在两个患有严重临床表现的婴儿中确定NDM的遗传原因.
- 扩大已知的辅酶Q10缺乏障碍的临床谱.
- 建议对NDM的基因测试小组进行更新.
主要方法:
- 用下一代测序来分析受影响个体的遗传组成.
- 收集和分析了包括症状和治疗反应在内的临床数据.
主要成果:
- 在这两个人中都发现了COQ9基因中的同卵性致病变体 (p.(Arg244*)).
- 两位患者都出现了胰岛素治疗的高血糖症,严重的大脑缺陷,形特征和乳酸.
- 这是首次报告与COQ9变体相关的新生儿高血糖症,扩大了辅酶Q10缺乏-5.5的表型.
结论:
- 在NDM的差异诊断中,应考虑COQ9变异,特别是在严重系统性参与的情况下.
- 与COQ9相关的辅酶Q10缺乏症的临床范围包括新生儿高血糖症.
- 用于NDM测试的基因组应包含COQ9,COQ2和COQ4以提高诊断产量.
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