Monogenic Disease Research Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
China National Clinical Research Center for Neurological Diseases, Beijing, China.
Stroke Vasc Neurol. 2020 Dec;5(4):416-421. doi: 10.1136/svn-2020-000352. Epub 2020 Apr 26.
Mendelian stroke causes nearly 7% of ischaemic strokes and is also an important aetiology of cryptogenic stroke. Identifying the genetic abnormalities in Mendelian strokes is important as it would facilitate therapeutic management and genetic counselling. Next-generation sequencing makes large-scale sequencing and genetic testing possible.
A systematic literature search was conducted to identify causal genes of Mendelian strokes, which were used to construct a hybridization-based gene capture panel. Genetic variants for target genes were detected using Illumina HiSeq X10 and the Novaseq platform. The sensitivity and specificity were evaluated by comparing the results with Sanger sequencing.
53 suspected patients of Mendelian strokes were analysed using the panel of 181 causal genes. According to the American College of Medical Genetics and Genomics standard, 16 likely pathogenic/variants of uncertain significance genetic variants were identified. Diagnostic testing was conducted by comparing the consistency between the results of panel and Sanger sequencing. Both the sensitivity and specificity were 100% for the panel.
This panel provides an economical, time-saving and labour-saving method to detect causal mutations of Mendelian strokes.
孟德尔氏中风导致近 7%的缺血性中风，也是隐源性中风的重要病因。识别孟德尔氏中风的遗传异常很重要，因为这将有助于治疗管理和遗传咨询。下一代测序使得大规模测序和基因检测成为可能。
进行了系统的文献检索，以确定孟德尔氏中风的致病基因，这些基因被用来构建基于杂交的基因捕获面板。使用 Illumina HiSeq X10 和 Novaseq 平台检测目标基因的遗传变异。通过将结果与 Sanger 测序进行比较，评估了灵敏度和特异性。
使用 181 个致病基因的面板分析了 53 名孟德尔氏中风疑似患者。根据美国医学遗传学和基因组学学院的标准，确定了 16 种可能的致病性/意义不明的变异遗传变异。通过比较面板和 Sanger 测序结果的一致性进行诊断性检测。该面板的灵敏度和特异性均为 100%。
该面板为检测孟德尔氏中风的致病突变提供了一种经济、省时和省力的方法。
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