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RNF213 and Clinical Feature

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Abstract

RNF213 was identified as the susceptibility gene for moyamoya disease. Further, several studies have clarified genotype–phenotype correlation of RNF213 in patients with moyamoya disease. Although the frequency or the influence of the genotype differed in each ethnic, but especially Asian founder p.R4810K homozygous variant of RNF213 was associated with severe clinical manifestation at the disease onset or younger age at disease onset in Japanese and Korean patients with moyamoya disease. Also, the other rare variant of RNF213 may influence severe phenotype. Moreover, it has been recently clarified that the other diseases such as intracranial artery stenosis, moyamoya syndrome, extracranial artery stenosis, or cerebral aneurysm were potentially influenced by RNF213.

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Authors and Affiliations

  1. Department of Neurosurgery, Tokyo Women’s Medical University Yachiyo Medical Center, Chiba, Japan

    Shunsuke Nomura & Akitsugu Kawashima

  2. Institute for Integrated Medical Sciences (TIIMS), Tokyo Women’s Medical University, Tokyo, Japan

    Hiroyuki Akagawa

  3. Department of Neurosurgery, Tokyo Women’s Medical University, Tokyo, Japan

    Koji Yamaguchi & Takakazu Kawamata

Authors
  1. Shunsuke Nomura
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  2. Hiroyuki Akagawa
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  3. Koji Yamaguchi
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  4. Akitsugu Kawashima
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  5. Takakazu Kawamata
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Correspondence to Shunsuke Nomura .

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Editors and Affiliations

  1. Department of Neurosurgery, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan

    Satoshi Kuroda

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Nomura, S., Akagawa, H., Yamaguchi, K., Kawashima, A., Kawamata, T. (2021). RNF213 and Clinical Feature. In: Kuroda, S. (eds) Moyamoya Disease: Current Knowledge and Future Perspectives. Springer, Singapore. https://doi.org/10.1007/978-981-33-6404-2_5

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  • DOI: https://doi.org/10.1007/978-981-33-6404-2_5

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