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

doi:10.1007/s12975-023-01194-w

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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.

Translational stroke research - 1 Dec 2024

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

Abstract excerpt

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...

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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.

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