A novel FOXC2 mutation in spinal extradural arachnoid cyst

Yoji Ogura; Shunsuke Fujibayashi; Aritoshi Iida; Ikuyo Kou; Masahiro Nakajima; Eijiro Okada; Yoshiaki Toyama; Akio Iwanami; Ken Ishii; Masaya Nakamura; Morio Matsumoto; Shiro Ikegawa

doi:10.1038/HGV.2015.32

A novel FOXC2 mutation in spinal extradural arachnoid cyst

Yoji Ogura, Shunsuke Fujibayashi, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Eijiro Okada, Yoshiaki Toyama, Akio Iwanami, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa

整形外科学

研究成果: Article › 査読

10 被引用数 (Scopus)

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Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C4T (p.Q117*).

本文言語	English
論文番号	15032
ジャーナル	Human Genome Variation
巻	2
号	1
DOI	https://doi.org/10.1038/HGV.2015.32
出版ステータス	Published - 2015

ASJC Scopus subject areas

生化学
分子生物学
遺伝学

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10.1038/HGV.2015.32

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title = "A novel FOXC2 mutation in spinal extradural arachnoid cyst",

abstract = "Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C4T (p.Q117*).",

author = "Yoji Ogura and Shunsuke Fujibayashi and Aritoshi Iida and Ikuyo Kou and Masahiro Nakajima and Eijiro Okada and Yoshiaki Toyama and Akio Iwanami and Ken Ishii and Masaya Nakamura and Morio Matsumoto and Shiro Ikegawa",

note = "Funding Information: We are very grateful to the individuals who participated in this study. We thank T Isono, T Kusadokoro, Y Takanashi, and S Tominaga for technical assistance. This study is supported by a research grant from Japan Agency For Medical Research and Development (AMED) (14525125 for S. I.). Publisher Copyright: {\textcopyright} 2015 The Japan Society of Human Genetics. All rights reserved.",

year = "2015",

doi = "10.1038/HGV.2015.32",

language = "English",

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journal = "Human Genome Variation",

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AU - Ogura, Yoji

AU - Fujibayashi, Shunsuke

AU - Iida, Aritoshi

AU - Kou, Ikuyo

AU - Nakajima, Masahiro

AU - Okada, Eijiro

AU - Toyama, Yoshiaki

AU - Iwanami, Akio

AU - Ishii, Ken

AU - Nakamura, Masaya

AU - Matsumoto, Morio

AU - Ikegawa, Shiro

N1 - Funding Information: We are very grateful to the individuals who participated in this study. We thank T Isono, T Kusadokoro, Y Takanashi, and S Tominaga for technical assistance. This study is supported by a research grant from Japan Agency For Medical Research and Development (AMED) (14525125 for S. I.). Publisher Copyright: © 2015 The Japan Society of Human Genetics. All rights reserved.

PY - 2015

Y1 - 2015

N2 - Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C4T (p.Q117*).

AB - Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C4T (p.Q117*).

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A novel FOXC2 mutation in spinal extradural arachnoid cyst

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