ArticleStroke and vascular neurology2020
Gene panel for Mendelian strokes.
Article in Stroke and vascular neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study.Genes · 2026Article
- Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.Stroke and vascular neurology · 2024Article
- A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.BMC neurology · 2024Article
- Detailed phenotype ofStroke and vascular neurology · 2023Article
- The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.Cell discovery · 2023Article
- Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.Journal of neurology · 2023Article
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.European journal of human genetics : EJHG · 2023Article
- An Exploration of Anti-Inflammatory Therapy in Acute/Subacute Severe Cerebral Venous Thrombosis with Hereditary Protein C/S Deficiency: Case Series.Journal of inflammation research · 2023Article
- Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMendelian 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.
methodsA 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.
results53 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.
conclusionThis panel provides an economical, time-saving and labour-saving method to detect causal mutations of Mendelian strokes.
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