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A novel FOXC2 mutation in spinal extradural arachnoid cyst.

Identifieur interne : 001112 ( PubMed/Corpus ); précédent : 001111; suivant : 001113

A novel FOXC2 mutation in spinal extradural arachnoid cyst.

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

Source :

Human genome variation [ 2054-345X ] ; 2015.

RBID : pubmed:27081541

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*).

DOI: 10.1038/hgv.2015.32
PubMed: 27081541

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pubmed:27081541

Le document en format XML

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<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Kyoto University , Kyoto, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A novel FOXC2 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>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.</nlm:affiliation>
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<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Kyoto University , Kyoto, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
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<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
</affiliation>
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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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<front><div type="abstract" xml:lang="en">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*).</div>
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<Abstract><AbstractText>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*).</AbstractText>
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<Author ValidYN="Y"><LastName>Nakamura</LastName>
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A novel FOXC2 mutation in spinal extradural arachnoid cyst.

A novel FOXC2 mutation in spinal extradural arachnoid cyst.

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Abstract

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