A novel FOXC2 mutation in spinal extradural arachnoid cyst

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 syndr...

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Autores principales: Ogura, Yoji, Fujibayashi, Shunsuke, Iida, Aritoshi, Kou, Ikuyo, Nakajima, Masahiro, Okada, Eijiro, Toyama, Yoshiaki, Iwanami, Akio, Ishii, Ken, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541/
https://www.ncbi.nlm.nih.gov/pubmed/27081541
http://dx.doi.org/10.1038/hgv.2015.32
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author Ogura, Yoji
Fujibayashi, Shunsuke
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Okada, Eijiro
Toyama, Yoshiaki
Iwanami, Akio
Ishii, Ken
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
author_facet Ogura, Yoji
Fujibayashi, Shunsuke
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Okada, Eijiro
Toyama, Yoshiaki
Iwanami, Akio
Ishii, Ken
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
author_sort Ogura, Yoji
collection PubMed
description 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.349C>T (p.Q117*).
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spelling pubmed-47855412016-04-14 A novel FOXC2 mutation in spinal extradural arachnoid cyst Ogura, Yoji Fujibayashi, Shunsuke Iida, Aritoshi Kou, Ikuyo Nakajima, Masahiro Okada, Eijiro Toyama, Yoshiaki Iwanami, Akio Ishii, Ken Nakamura, Masaya Matsumoto, Morio Ikegawa, Shiro Hum Genome Var Data Report 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.349C>T (p.Q117*). Nature Publishing Group 2015-09-17 /pmc/articles/PMC4785541/ /pubmed/27081541 http://dx.doi.org/10.1038/hgv.2015.32 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 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-nd/4.0/
spellingShingle Data Report
Ogura, Yoji
Fujibayashi, Shunsuke
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Okada, Eijiro
Toyama, Yoshiaki
Iwanami, Akio
Ishii, Ken
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
A novel FOXC2 mutation in spinal extradural arachnoid cyst
title A novel FOXC2 mutation in spinal extradural arachnoid cyst
title_full A novel FOXC2 mutation in spinal extradural arachnoid cyst
title_fullStr A novel FOXC2 mutation in spinal extradural arachnoid cyst
title_full_unstemmed A novel FOXC2 mutation in spinal extradural arachnoid cyst
title_short A novel FOXC2 mutation in spinal extradural arachnoid cyst
title_sort novel foxc2 mutation in spinal extradural arachnoid cyst
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541/
https://www.ncbi.nlm.nih.gov/pubmed/27081541
http://dx.doi.org/10.1038/hgv.2015.32
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