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Area of Science:

  • Genetics
  • Neurology
  • Medical Genomics

Background:

  • Whole-exome and whole-genome sequencing enable extensive analysis of monogenic causes of stroke.
  • A comprehensive gene panel is needed for clinical and research applications in monogenic stroke.

Purpose of the Study:

  • To compile a comprehensive panel of genes associated with monogenic stroke.
  • To classify stroke phenotypes linked to these genes.
  • To facilitate the interpretation of genetic sequencing data for stroke.

Main Methods:

  • Systematic search of the Online Mendelian Inheritance in Man database.
  • Validation of gene entries against peer-reviewed publications in PubMed.
  • Selection of genes based on reported stroke association, plausible indirect causation, and genome-wide association studies (GWAS).

Main Results:

  • Identified a total of 214 genes associated with monogenic stroke.
  • 120 genes directly linked to stroke, 62 to stroke-related diseases, and 32 from GWAS.
  • Classified genes by eight stroke phenotype subgroups (e.g., large artery disease, small vessel disease, cardioembolic, hemorrhage).

Conclusions:

  • The developed gene panel aids in interpreting exome sequencing results for monogenic stroke.
  • The panel's clinical phenotype descriptions can assist in evaluating the pathogenicity of novel variants.
  • This resource supports genetic diagnosis and research in monogenic stroke disorders.