LymphedemaV1, Main, Exploration, bibRecord, 007740

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Identifieur interne : 007740 ( Main/Exploration ); précédent : 007739; suivant : 007741

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Auteurs : Russell H. Mellor [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Anthony W. B. Stanton [Royaume-Uni] ; Jane French [Royaume-Uni] ; Alberto Smith [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; J. Rodney Levick [Royaume-Uni] ; Kevin G. Burnand [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni]

Source :

Circulation : (New York, N.Y.) [ 0009-7322 ] ; 2007.

RBID : Pascal:07-0207378

Descripteurs français

Pascal (Inist)
- Appareil circulatoire pathologie, Lymphoedème, Mutation, Valvule veine, Membre inférieur, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Cardiovascular disease, Human, Lower limb, Lymphedema, Mutation, Vein valve.

Abstract

Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 000483
to stream PascalFrancis, to step Curation: 000477
to stream PascalFrancis, to step Checkpoint: 000457
to stream Main, to step Merge: 007901
to stream Main, to step Curation: 007740

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb</title>
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<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
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<author><name sortKey="Stanton, Anthony W B" sort="Stanton, Anthony W B" uniqKey="Stanton A" first="Anthony W. B." last="Stanton">Anthony W. B. Stanton</name>
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<author><name sortKey="French, Jane" sort="French, Jane" uniqKey="French J" first="Jane" last="French">Jane French</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Vascular Laboratory, St George's Hospital</s1>
<s2>London</s2>
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</author>
<author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
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<region type="country">Angleterre</region>
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<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
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<author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J. Rodney" last="Levick">J. Rodney Levick</name>
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<s2>London</s2>
<s3>GBR</s3>
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<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G." last="Burnand">Kevin G. Burnand</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Circulation : (New York, N.Y.)</title>
<title level="j" type="abbreviated">Circulation : (N. Y. N.Y.)</title>
<idno type="ISSN">0009-7322</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
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<seriesStmt><title level="j" type="main">Circulation : (New York, N.Y.)</title>
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<idno type="ISSN">0009-7322</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cardiovascular disease</term>
<term>Human</term>
<term>Lower limb</term>
<term>Lymphedema</term>
<term>Mutation</term>
<term>Vein valve</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Appareil circulatoire pathologie</term>
<term>Lymphoedème</term>
<term>Mutation</term>
<term>Valvule veine</term>
<term>Membre inférieur</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
<orgName><li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mellor, Russell H" sort="Mellor, Russell H" uniqKey="Mellor R" first="Russell H." last="Mellor">Russell H. Mellor</name>
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<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G." last="Burnand">Kevin G. Burnand</name>
<name sortKey="French, Jane" sort="French, Jane" uniqKey="French J" first="Jane" last="French">Jane French</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J. Rodney" last="Levick">J. Rodney Levick</name>
<name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name>
<name sortKey="Stanton, Anthony W B" sort="Stanton, Anthony W B" uniqKey="Stanton A" first="Anthony W. B." last="Stanton">Anthony W. B. Stanton</name>
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</record>

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Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri