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Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease

Shunsuke Nomura,Hiroyuki Akagawa,Koji Yamaguchi,Kenko Azuma,Akikazu Nakamura,Atsushi Fukui,Fumiko Matsuzawa,Yasuo Aihara,Tatsuya Ishikawa,Yosuke Moteki,Kentaro Chiba,Kazutoshi Hashimoto,Shuhei Morita,Taichi Ishiguro,Yoshikazu Okada,Sandra Vetiska,Hugo Andrade-Barazarte,Ivan Radovanovic,Akitsugu Kawashima,Takakazu Kawamata

Translational Stroke Research（2023）

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Abstract
It is unclear how rare RNF213 variants, other than the p.R4810K founder variant, affect the clinical phenotype or the function of RNF213 in moyamoya disease (MMD). This study included 151 Japanese patients with MMD. After performing targeted resequencing for all coding exons in RNF213, we investigated the clinical phenotype and statistically analyzed the genotype–phenotype correlation. We mapped RNF213 variants on a three-dimensional (3D) model of human RNF213 and analyzed the structural changes due to variants. The RNF213 p.R4810K homozygous variant, p.R4810K heterozygous variant, and wild type were detected in 10 (6.6
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Key words
Moyamoya disease,Genetics,Phenotype,RNF213,Rare variant,Structural analysis
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