LymphedemaV1, Main, Curation, bibRecord, 002214

A novel FOXC2 mutation in spinal extradural arachnoid cyst

Identifieur interne : 002214 ( Main/Curation ); précédent : 002213; suivant : 002215

A novel FOXC2 mutation in spinal extradural arachnoid cyst

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

Source :

Human Genome Variation [ 2054-345X ] ; 2015.

RBID : PMC:4785541

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.349C>T (p.Q117*).

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541

DOI: 10.1038/hgv.2015.32
PubMed: 27081541
PubMed Central: 4785541

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PMC:4785541

Le document en format XML

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 mutation in spinal extradural arachnoid cyst</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
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<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
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<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
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<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
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<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
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, Tokyo,<country>Japan</country>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
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, Tokyo,<country>Japan</country>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
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, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
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, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
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, Tokyo,<country>Japan</country>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<front><div type="abstract" xml:lang="en"><p>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 <italic>FOXC2</italic>
 mutations in two SEDAC families. The <italic>FOXC2</italic>
 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 <italic>FOXC2</italic>
, c.349C>T (p.Q117*).</p>
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A novel FOXC2 mutation in spinal extradural arachnoid cyst

A novel FOXC2 mutation in spinal extradural arachnoid cyst

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki