A novel FOXC2 mutation in spinal extradural arachnoid cyst
Identifieur interne : 001561 ( Pmc/Checkpoint ); précédent : 001560; suivant : 001562A 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.
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
Url:
DOI: 10.1038/hgv.2015.32
PubMed: 27081541
PubMed Central: 4785541
Affiliations:
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mutation in spinal extradural arachnoid cyst</title>
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<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
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<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</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="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
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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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<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
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, Tokyo,<country>Japan</country>
</nlm:aff>
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<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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<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, 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="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, 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="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</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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<series><title level="j">Human Genome Variation</title>
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<imprint><date when="2015">2015</date>
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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>
</div>
</front>
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<pmc article-type="letter"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Genome Var</journal-id>
<journal-id journal-id-type="iso-abbrev">Hum Genome Var</journal-id>
<journal-title-group><journal-title>Human Genome Variation</journal-title>
</journal-title-group>
<issn pub-type="epub">2054-345X</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">27081541</article-id>
<article-id pub-id-type="pmc">4785541</article-id>
<article-id pub-id-type="pii">hgv201532</article-id>
<article-id pub-id-type="doi">10.1038/hgv.2015.32</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Data Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>A novel <italic>FOXC2</italic>
mutation in spinal extradural arachnoid cyst</article-title>
<alt-title alt-title-type="running"><italic>FOXC2</italic>
mutation in SEDAC</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Ogura</surname>
<given-names>Yoji</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fujibayashi</surname>
<given-names>Shunsuke</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Iida</surname>
<given-names>Aritoshi</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kou</surname>
<given-names>Ikuyo</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nakajima</surname>
<given-names>Masahiro</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Okada</surname>
<given-names>Eijiro</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Toyama</surname>
<given-names>Yoshiaki</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Iwanami</surname>
<given-names>Akio</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ishii</surname>
<given-names>Ken</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nakamura</surname>
<given-names>Masaya</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Matsumoto</surname>
<given-names>Morio</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ikegawa</surname>
<given-names>Shiro</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Department of Orthopaedic Surgery, Kyoto University</institution>
, Kyoto,<country>Japan</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Department of Orthopaedic Surgery, Saiseikai Central Hospital</institution>
, Tokyo,<country>Japan</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
(<email>sikegawa@ims.u-tokyo.ac.jp</email>
)</corresp>
</author-notes>
<pub-date pub-type="epub"><day>17</day>
<month>09</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="collection"><year>2015</year>
</pub-date>
<volume>2</volume>
<fpage>15032</fpage>
<lpage></lpage>
<history><date date-type="received"><day>28</day>
<month>05</month>
<year>2015</year>
</date>
<date date-type="rev-recd"><day>09</day>
<month>07</month>
<year>2015</year>
</date>
<date date-type="accepted"><day>18</day>
<month>07</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2015 The Japan Society of Human Genetics</copyright-statement>
<copyright-year>2015</copyright-year>
<copyright-holder>The Japan Society of Human Genetics</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/"><pmc-comment>author-paid</pmc-comment>
<license-p>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 <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/">http://creativecommons.org/licenses/by-nc-nd/4.0/</ext-link>
</license-p>
</license>
</permissions>
<abstract><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>
</abstract>
</article-meta>
</front>
<floats-group><fig id="fig1"><label>Figure 1</label>
<caption><p>Spinal extradural arachnoid cyst. T2-weighted image of magnetic resonance imaging (MRI) scan. There are multiple cysts (asterisk marks) dorsal to the spinal cord at the thoracic spine.</p>
</caption>
<graphic xlink:href="hgv201532-f1"></graphic>
</fig>
<fig id="fig2"><label>Figure 2</label>
<caption><p><italic>FOXC2</italic>
mutations in spinal extradural arachnoid cyst. (<bold>a</bold>
) Electrophoreogram of the wild type <italic>FOXC2</italic>
(upper panel) and heterozygous nonsense mutation c.349C>T (Q117*) in the present patient (lower panel). (<bold>b</bold>
) Amino-acid sequences around p.Q117 of the FOXC2 in different species. p.Q117 is highly conserved. (<bold>c</bold>
) Protein structure of FOXC2 and positions of the present (blue letters) and previously identified (black letters) mutations in spinal extradural arachnoid cyst. (<bold>d</bold>
) Dual luciferase assay. Promoter activities of wild type (WT) and Q117* FOXC2 vectors and the empty vector (NC). The activity of Q117* FOXC2 was significantly decreased compared with that of WT FOXC2 (Asterisk: <italic>P</italic>
<0.01 (<italic>t</italic>
-test), thick bar: mean value, error bar: s.e.).</p>
</caption>
<graphic xlink:href="hgv201532-f2"></graphic>
</fig>
</floats-group>
</pmc>
<affiliations><list><country><li>Japon</li>
</country>
</list>
<tree><country name="Japon"><noRegion><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
</noRegion>
<name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
</country>
</tree>
</affiliations>
</record>
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