Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

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 i...

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Autores principales: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784207/
https://www.ncbi.nlm.nih.gov/pubmed/29387438
http://dx.doi.org/10.1038/hgv.2017.60
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author Akagawa, Hiroyuki
Mukawa, Maki
Nariai, Tadashi
Nomura, Shunsuke
Aihara, Yasuo
Onda, Hideaki
Yoneyama, Taku
Kudo, Takumi
Sumita, Kazutaka
Maehara, Taketoshi
Kawamata, Takakazu
Kasuya, Hidetoshi
author_facet Akagawa, Hiroyuki
Mukawa, Maki
Nariai, Tadashi
Nomura, Shunsuke
Aihara, Yasuo
Onda, Hideaki
Yoneyama, Taku
Kudo, Takumi
Sumita, Kazutaka
Maehara, Taketoshi
Kawamata, Takakazu
Kasuya, Hidetoshi
author_sort Akagawa, Hiroyuki
collection PubMed
description 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.
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spelling pubmed-57842072018-01-31 Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease Akagawa, Hiroyuki Mukawa, Maki Nariai, Tadashi Nomura, Shunsuke Aihara, Yasuo Onda, Hideaki Yoneyama, Taku Kudo, Takumi Sumita, Kazutaka Maehara, Taketoshi Kawamata, Takakazu Kasuya, Hidetoshi Hum Genome Var Data Report 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. Nature Publishing Group 2018-01-25 /pmc/articles/PMC5784207/ /pubmed/29387438 http://dx.doi.org/10.1038/hgv.2017.60 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Akagawa, Hiroyuki
Mukawa, Maki
Nariai, Tadashi
Nomura, Shunsuke
Aihara, Yasuo
Onda, Hideaki
Yoneyama, Taku
Kudo, Takumi
Sumita, Kazutaka
Maehara, Taketoshi
Kawamata, Takakazu
Kasuya, Hidetoshi
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title_full Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title_fullStr Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title_full_unstemmed Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title_short Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease
title_sort novel and recurrent rnf213 variants in japanese pediatric patients with moyamoya disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784207/
https://www.ncbi.nlm.nih.gov/pubmed/29387438
http://dx.doi.org/10.1038/hgv.2017.60
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