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Protocol
Gene panel for Mendelian strokes
  1. Fang Fang1,2,
  2. Zhe Xu2,3,
  3. Yue Suo2,4,
  4. Hui Wang1,2,
  5. Si Cheng2,3,
  6. Hao Li2,3,
  7. Wei Li1,2,
  8. Yongjun Wang2,4,5,6
  1. 1 Monogenic Disease Research Center for Neurological Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
  2. 2 China National Clinical Research Center for Neurological Diseases, Beijing, China
  3. 3 Beijing Tiantan Hospital, Capital Medical University, Beijing, China
  4. 4 Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
  5. 5 Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China
  6. 6 Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China
  1. Correspondence to Dr Wei Li; lwdoctors{at}sina.com; Dr Yongjun Wang; yongjunwang{at}ncrcnd.org.cn

Abstract

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.

  • stroke
  • technology
http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/svn-2020-000352

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    Footnotes

    • FF and ZX are joint first authors.

    • WL and YW contributed equally.

    • Contributors YW and WL had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: YW, WL and HL. Searching of Causal Genes: YS and SC. Diagnostic testing and statistical analysis: FF and ZX. Bioinformatics analysis: ZX. Drafting of the manuscript: FF, ZX, YS, HW, WL, HL and YW. Critical revision of the manuscript for important intellectual content: HL. Study supervision and organization of the project: WL and YW.

    • Funding 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) Beijing Municipal Commission of Health and Family Planning (No.2016-1-2041, SML20150502). Beijing Municipal Science & Technology Commission (D171100003017002).

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval This study was approved by the local ethical committees of Beijing Tiantan Hospital, Capital Medical University.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement No data are available. This paper is a research protocol, which is mainly used to explain the principle and availability of detection technology, so no data are provided.