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AKAGAWA HIROYUKI
Department Research Institutes and Facilities, Research Institutes and Facilities Position Associate Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease. |
| Journal | Formal name：Human genome variation Abbreviation：Hum Genome Var ISSN code：2054345X/2054345X |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 5,pp.17060 |
| Author and coauthor | Akagawa Hiroyuki†, Mukawa Maki, Nariai Tadashi, Nomura Shunsuke, Aihara Yasuo, Onda Hideaki, Yoneyama Taku, Kudo Takumi, Sumita Kazutaka, Maehara Taketoshi, Kawamata Takakazu, Kasuya Hidetoshi |
| Publication date | 2018/01 |
| Summary | Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients. |
| DOI | 10.1038/hgv.2017.60 |
| PMID | 29387438 |