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选罕见的遗传诊断,以适应定制反意义寡核酸治疗的发展:一项回顾性队列研究

David Cheerie¹, Marlen C Lauffer², Logan Newton¹

¹Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Genetics in medicine : official journal of the American College of Medical Genetics

|October 15, 2025

概括

通过全基因组测序确定的遗传诊断的很大一部分可以用反感性寡核酸 (ASO) 疗法治疗. 早期诊断和ASO变体评估对于有效治疗至关重要.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
药物基因组学药物基因组学

背景情况:

反感性寡核酸 (ASO) 疗法为治疗遗传疾病提供了一个有前途的途径.
评估分子遗传诊断对ASO治疗的适用性对于临床应用至关重要.

研究的目的:

为了确定分子遗传诊断的比例,在多样化的患者队列中接受ASO治疗.
评估ASO疗法在一系列遗传疾病中的潜力.

主要方法:

在6年内对532名儿科患者进行全基因组测序的诊断变异的回顾性分析.
应用N=1协作者的变体评估,以获得反意义寡核酸治疗指南的资格.
根据各种ASO方法 (表因子跳转,拼接校正,mRNA敲击) 的符合条件的变异的分类.

主要成果:

4.9%的患者 (26/532) 具有在分子水平上符合或可能符合ASO治疗的变异.
鉴定出了符合条件的变体,用于表子跳转 (4),拼接校正 (3) 和mRNA淘汰 (19).
在症状出现一年之内,只有8例诊断;在进一步评估后,11例仍然是定制ASO发展的候选人.

结论:

通过全基因组测序识别的大量遗传诊断显示出ASO治疗的潜力.
及时诊断和积极识别/测试ASO易受感染的变种是必不可少的.
这凸显了ASO在遗传疾病的精密医学中不断扩大的作用.

关键词:

反意义的寡核化物.实验性治疗是一种实验性治疗.天生的遗传疾病是天生的遗传疾病.罕见疾病是一种罕见的疾病.

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