LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000483

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

Identifieur interne : 000483 ( PascalFrancis/Corpus ); précédent : 000482; suivant : 000484

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

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

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0009-7322`
A02	`01`			`@0 CIRCAZ`
A03		`1`		`@0 Circulation : (N. Y. N.Y.)`
A05				`@2 115`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb`
A11	`01`	`1`		`@1 MELLOR (Russell H.)`
A11	`02`	`1`		`@1 BRICE (Glen)`
A11	`03`	`1`		`@1 STANTON (Anthony W. B.)`
A11	`04`	`1`		`@1 FRENCH (Jane)`
A11	`05`	`1`		`@1 SMITH (Alberto)`
A11	`06`	`1`		`@1 JEFFERY (Steve)`
A11	`07`	`1`		`@1 LEVICK (J. Rodney)`
A11	`08`	`1`		`@1 BURNAND (Kevin G.)`
A11	`09`	`1`		`@1 MORTIMER (Peter S.)`
A14	`01`			`@1 Cardiac & Vascular Sciences (Dermatology), St George's, University of London @2 London @3 GBR @Z 1 aut. @Z 3 aut. @Z 9 aut.`
A14	`02`			`@1 Clinical Genetics, St George's, University of London @2 London @3 GBR @Z 2 aut.`
A14	`03`			`@1 Vascular Laboratory, St George's Hospital @2 London @3 GBR @Z 4 aut.`
A14	`04`			`@1 Department of Academic Surgery, St Thomas' Hospital @2 London @3 GBR @Z 5 aut. @Z 8 aut.`
A14	`05`			`@1 Clinical Developmental Sciences, St George's, University of London @2 London @3 GBR @Z 6 aut.`
A14	`06`			`@1 Physiology, St George's, University of London @2 London @3 GBR @Z 7 aut.`
A20				`@1 1912-1920`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 5907 @5 354000143507070120`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 36 ref.`
A47	`01`	`1`		`@0 07-0207378`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Circulation : (New York, N.Y.)`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B12B03`
C02	`02`	`X`		`@0 002B25F`
C02	`03`	`X`		`@0 002B05B02C`
C03	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 01`
C03	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Lymphoedème @5 02`
C03	`02`	`X`	`ENG`	`@0 Lymphedema @5 02`
C03	`02`	`X`	`SPA`	`@0 Linfedema @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Valvule veine @5 10`
C03	`04`	`X`	`ENG`	`@0 Vein valve @5 10`
C03	`04`	`X`	`SPA`	`@0 Válvula vena @5 10`
C03	`05`	`X`	`FRE`	`@0 Membre inférieur @5 11`
C03	`05`	`X`	`ENG`	`@0 Lower limb @5 11`
C03	`05`	`X`	`SPA`	`@0 Miembro inferior @5 11`
C03	`06`	`X`	`FRE`	`@0 Homme @5 12`
C03	`06`	`X`	`ENG`	`@0 Human @5 12`
C03	`06`	`X`	`SPA`	`@0 Hombre @5 12`
C07	`01`	`X`	`FRE`	`@0 Lymphatique pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Linfático patología @5 37`
N21				`@1 141`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0207378 INIST
ET :	Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb
AU :	MELLOR (Russell H.); BRICE (Glen); STANTON (Anthony W. B.); FRENCH (Jane); SMITH (Alberto); JEFFERY (Steve); LEVICK (J. Rodney); BURNAND (Kevin G.); MORTIMER (Peter S.)
AF :	Cardiac & Vascular Sciences (Dermatology), St George's, University of London/London/Royaume-Uni (1 aut., 3 aut., 9 aut.); Clinical Genetics, St George's, University of London/London/Royaume-Uni (2 aut.); Vascular Laboratory, St George's Hospital/London/Royaume-Uni (4 aut.); Department of Academic Surgery, St Thomas' Hospital/London/Royaume-Uni (5 aut., 8 aut.); Clinical Developmental Sciences, St George's, University of London/London/Royaume-Uni (6 aut.); Physiology, St George's, University of London/London/Royaume-Uni (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Circulation : (New York, N.Y.); ISSN 0009-7322; Coden CIRCAZ; Etats-Unis; Da. 2007; Vol. 115; No. 14; Pp. 1912-1920; Bibl. 36 ref.
LA :	Anglais
EA :	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.
CC :	002B12B03; 002B25F; 002B05B02C
FD :	Appareil circulatoire pathologie; Lymphoedème; Mutation; Valvule veine; Membre inférieur; Homme
FG :	Lymphatique pathologie
ED :	Cardiovascular disease; Lymphedema; Mutation; Vein valve; Lower limb; Human
EG :	Lymphatic vessel disease
SD :	Aparato circulatorio patología; Linfedema; Mutación; Válvula vena; Miembro inferior; Hombre
LO :	INIST-5907.354000143507070120
ID :	07-0207378

Links to Exploration step

Pascal:07-0207378

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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<s2>London</s2>
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<sZ>8 aut.</sZ>
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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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<author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G." last="Burnand">Kevin G. Burnand</name>
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<sZ>8 aut.</sZ>
</inist:fA14>
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<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>
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<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>
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<fA11 i1="09" i2="1"><s1>MORTIMER (Peter S.)</s1>
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<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>
</fA14>
<fA14 i1="02"><s1>Clinical Genetics, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Vascular Laboratory, St George's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="05"><s1>Clinical Developmental Sciences, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Physiology, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B12B03</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B25F</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B05B02C</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>02</s5>
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<fC03 i1="02" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Valvule veine</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Vein valve</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Válvula vena</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Membre inférieur</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Lower limb</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Miembro inferior</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>37</s5>
</fC07>
<fN21><s1>141</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0207378 INIST</NO>
<ET>Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb</ET>
<AU>MELLOR (Russell H.); BRICE (Glen); STANTON (Anthony W. B.); FRENCH (Jane); SMITH (Alberto); JEFFERY (Steve); LEVICK (J. Rodney); BURNAND (Kevin G.); MORTIMER (Peter S.)</AU>
<AF>Cardiac & Vascular Sciences (Dermatology), St George's, University of London/London/Royaume-Uni (1 aut., 3 aut., 9 aut.); Clinical Genetics, St George's, University of London/London/Royaume-Uni (2 aut.); Vascular Laboratory, St George's Hospital/London/Royaume-Uni (4 aut.); Department of Academic Surgery, St Thomas' Hospital/London/Royaume-Uni (5 aut., 8 aut.); Clinical Developmental Sciences, St George's, University of London/London/Royaume-Uni (6 aut.); Physiology, St George's, University of London/London/Royaume-Uni (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Circulation : (New York, N.Y.); ISSN 0009-7322; Coden CIRCAZ; Etats-Unis; Da. 2007; Vol. 115; No. 14; Pp. 1912-1920; Bibl. 36 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B12B03; 002B25F; 002B05B02C</CC>
<FD>Appareil circulatoire pathologie; Lymphoedème; Mutation; Valvule veine; Membre inférieur; Homme</FD>
<FG>Lymphatique pathologie</FG>
<ED>Cardiovascular disease; Lymphedema; Mutation; Vein valve; Lower limb; Human</ED>
<EG>Lymphatic vessel disease</EG>
<SD>Aparato circulatorio patología; Linfedema; Mutación; Válvula vena; Miembro inferior; Hombre</SD>
<LO>INIST-5907.354000143507070120</LO>
<ID>07-0207378</ID>
</server>
</inist>
</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

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