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Updated: Sep 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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[Association of Rare RNF213 Variants and Moyamoya Disease]

Hiroyuki Akagawa1

  • 1Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University.

No Shinkei Geka. Neurological Surgery
|May 29, 2025
PubMed

Insights

Rare RNF213 variants, beyond the common p.R4810K, are linked to moyamoya disease severity, particularly in pediatric cases. Further research is needed for precision medicine approaches targeting these genetic factors.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Moyamoya disease is a rare cerebrovascular disorder.
  • RNF213 variants are associated with moyamoya disease, especially in Asian populations.
  • Rare RNF213 variants, other than p.R4810K, are implicated in moyamoya disease.

Purpose of the Study:

  • To investigate the role of rare RNF213 variants in moyamoya disease.
  • To understand the prevalence and impact of specific variants like p.R4062Q.
  • To explore the structural and functional consequences of these variants.

Main Methods:

  • Bioinformatics analysis, including Combined Annotation-Dependent Depletion (CADe).
  • Review of existing studies identifying RNF213 variants in moyamoya patients.
  • Three-dimensional structural analysis of RNF213 variants.

Main Results:

  • Rare functional RNF213 variants are more prevalent in moyamoya disease patients than the general population.
  • The p.R4062Q variant has been frequently reported in severe pediatric moyamoya disease cases.
  • Structural analysis suggests p.R4062Q may destabilize the RNF213 E3 ligase module.

Conclusions:

  • Accumulation of rare susceptibility variants in the RNF213 E3 module may influence moyamoya disease severity in pediatric cases.
  • Further in vitro and in vivo functional studies are necessary.
  • Findings support the potential for developing precision medicine strategies for moyamoya disease.

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