background 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...background 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.Methods 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.results 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.Conclusion This panel provides an economical,time-saving and labour-saving method to detect causal mutations of Mendelian strokes.展开更多
基金The Ministry of Science and Technology of the People’s Republic of China(2016YFC0901001,2016YFC0901002,2016YFC0901004,2017YFC1310901,2017YFC1310902,2018YFC1311700,2018YFC1311706)National Science and Technology Major Project(2017ZX09304018)+1 种基金Beijing Municipal Commission of Health and Family Planning(No.2016-1-2041,SML20150502)Beijing Municipal Science&Technology Commission(D171100003017002).
文摘background 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.Methods 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.results 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.Conclusion This panel provides an economical,time-saving and labour-saving method to detect causal mutations of Mendelian strokes.
