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A novel FOXC2 mutation in spinal extradural arachnoid cyst

Identifieur interne : 001561 ( Pmc/Checkpoint ); précédent : 001560; suivant : 001562

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 :

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


Affiliations:


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PMC:4785541

Le document en format XML

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<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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<article-id pub-id-type="pmc">4785541</article-id>
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<article-id pub-id-type="doi">10.1038/hgv.2015.32</article-id>
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<subject>Data Report</subject>
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<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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