LymphedemaV1, Main, Exploration, bibRecord, 003983

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Identifieur interne : 003983 ( Main/Exploration ); précédent : 003982; suivant : 003984

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Auteurs : Yoji Ogura [Japon] ; Shoji Yabuki [Japon] ; Aritoshi Iida [Japon] ; Ikuyo Kou [Japon] ; Masahiro Nakajima [Japon] ; Hiroki Kano [Japon] ; Masaaki Shiina [Japon] ; Shinichi Kikuchi [Japon] ; Yoshiaki Toyama [Japon] ; Kazuhiro Ogata [Japon] ; Masaya Nakamura [Japon] ; Morio Matsumoto [Japon] ; Shiro Ikegawa [Japon]

Source :

PLoS ONE [ 1932-6203 ] ; 2013.

RBID : PMC:3838418

Descripteurs français

KwdFr :
- Amorces ADN, Animaux, Cellules COS, Cellules HeLa, Cercopithecus aethiops, Facteurs de transcription Forkhead (génétique), Femelle, Humains, Kystes arachnoïdiens (génétique), Maladies du rachis (génétique), Mutation, Mâle, Pedigree, RT-PCR, Séquence nucléotidique.
MESH :
- génétique : Facteurs de transcription Forkhead, Kystes arachnoïdiens, Maladies du rachis.
- Amorces ADN, Animaux, Cellules COS, Cellules HeLa, Cercopithecus aethiops, Femelle, Humains, Mutation, Mâle, Pedigree, RT-PCR, Séquence nucléotidique.

English descriptors

KwdEn :
- Animals, Arachnoid Cysts (genetics), Base Sequence, COS Cells, Cercopithecus aethiops, DNA Primers, Female, Forkhead Transcription Factors (genetics), HeLa Cells, Humans, Male, Mutation, Pedigree, Reverse Transcriptase Polymerase Chain Reaction, Spinal Diseases (genetics).
MESH :
- chemical , genetics : Forkhead Transcription Factors.
- chemical : DNA Primers.
- genetics : Arachnoid Cysts, Spinal Diseases.
- Animals, Base Sequence, COS Cells, Cercopithecus aethiops, Female, HeLa Cells, Humans, Male, Mutation, Pedigree, Reverse Transcriptase Polymerase Chain Reaction.

Abstract

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838418

DOI: 10.1371/journal.pone.0080548
PubMed: 24278289
PubMed Central: 3838418

Affiliations:

Le document en format XML

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 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst</title>
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 Mutations in Familial and Sporadic 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="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
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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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<author><name sortKey="Kano, Hiroki" sort="Kano, Hiroki" uniqKey="Kano H" first="Hiroki" last="Kano">Hiroki Kano</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Arachnoid Cysts (genetics)</term>
<term>Base Sequence</term>
<term>COS Cells</term>
<term>Cercopithecus aethiops</term>
<term>DNA Primers</term>
<term>Female</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>HeLa Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Spinal Diseases (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Amorces ADN</term>
<term>Animaux</term>
<term>Cellules COS</term>
<term>Cellules HeLa</term>
<term>Cercopithecus aethiops</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Kystes arachnoïdiens (génétique)</term>
<term>Maladies du rachis (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>RT-PCR</term>
<term>Séquence nucléotidique</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>DNA Primers</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arachnoid Cysts</term>
<term>Spinal Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription Forkhead</term>
<term>Kystes arachnoïdiens</term>
<term>Maladies du rachis</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Base Sequence</term>
<term>COS Cells</term>
<term>Cercopithecus aethiops</term>
<term>Female</term>
<term>HeLa Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Amorces ADN</term>
<term>Animaux</term>
<term>Cellules COS</term>
<term>Cellules HeLa</term>
<term>Cercopithecus aethiops</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>RT-PCR</term>
<term>Séquence nucléotidique</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is <italic>FOXC2</italic>
. However, <italic>FOXC2</italic>
 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined <italic>FOXC2</italic>
 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel <italic>FOXC2</italic>
 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous <italic>FOXC2</italic>
 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no <italic>FOXC2</italic>
 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had <italic>FOXC2</italic>
 mutations, suggesting that other gene(s) besides <italic>FOXC2</italic>
 are likely to be involved in SEDAC.</p>
</div>
</front>
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</div1>
</back>
</TEI>
<affiliations><list><country><li>Japon</li>
</country>
<region><li>Région de Kantō</li>
</region>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Japon"><region name="Région de Kantō"><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
</region>
<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="Kano, Hiroki" sort="Kano, Hiroki" uniqKey="Kano H" first="Hiroki" last="Kano">Hiroki Kano</name>
<name sortKey="Kikuchi, Shinichi" sort="Kikuchi, Shinichi" uniqKey="Kikuchi S" first="Shinichi" last="Kikuchi">Shinichi Kikuchi</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="Ogata, Kazuhiro" sort="Ogata, Kazuhiro" uniqKey="Ogata K" first="Kazuhiro" last="Ogata">Kazuhiro Ogata</name>
<name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<name sortKey="Shiina, Masaaki" sort="Shiina, Masaaki" uniqKey="Shiina M" first="Masaaki" last="Shiina">Masaaki Shiina</name>
<name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<name sortKey="Yabuki, Shoji" sort="Yabuki, Shoji" uniqKey="Yabuki S" first="Shoji" last="Yabuki">Shoji Yabuki</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur le lymphœdème

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

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