Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.
Identifieur interne : 002628 ( Ncbi/Merge ); précédent : 002627; suivant : 002629Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.
Auteurs : Russell H. Mellor [Royaume-Uni] ; Glen Brice ; Anthony W B. Stanton ; Jane French ; Alberto Smith ; Steve Jeffery ; J Rodney Levick ; Kevin G. Burnand ; Peter S. MortimerSource :
- Circulation [ 1524-4539 ] ; 2007.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Chromosomes humains de la paire 16 (génétique), Facteurs de transcription Forkhead (génétique), Femelle, Gènes dominants, Humains, Jambe (), Jambe (imagerie diagnostique), Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Lymphoedème (physiopathologie), Malformations lymphatiques (génétique), Malformations lymphatiques (imagerie diagnostique), Malformations lymphatiques (physiopathologie), Mutagenèse par insertion, Mutation faux-sens, Mâle, Sujet âgé, Vaisseaux lymphatiques (anatomopathologie), Vaisseaux lymphatiques (embryologie), Vaisseaux lymphatiques (imagerie diagnostique), Varices (génétique), Varices (imagerie diagnostique), Varices (physiopathologie), Veine saphène (imagerie diagnostique), Veine saphène (physiopathologie), Veines (embryologie), Échographie-doppler couleur.
- MESH :
- anatomopathologie : Vaisseaux lymphatiques.
- embryologie : Vaisseaux lymphatiques, Veines.
- génétique : Chromosomes humains de la paire 16, Facteurs de transcription Forkhead, Lymphoedème, Malformations lymphatiques, Varices.
- imagerie diagnostique : Jambe, Lymphoedème, Malformations lymphatiques, Vaisseaux lymphatiques, Varices, Veine saphène.
- physiopathologie : Lymphoedème, Malformations lymphatiques, Varices, Veine saphène.
- Adulte, Adulte d'âge moyen, Femelle, Gènes dominants, Humains, Jambe, Mutagenèse par insertion, Mutation faux-sens, Mâle, Sujet âgé, Échographie-doppler couleur.
English descriptors
- KwdEn :
- Adult, Aged, Chromosomes, Human, Pair 16 (genetics), Female, Forkhead Transcription Factors (genetics), Genes, Dominant, Humans, Leg (blood supply), Leg (diagnostic imaging), Lymphatic Abnormalities (diagnostic imaging), Lymphatic Abnormalities (genetics), Lymphatic Abnormalities (physiopathology), Lymphatic Vessels (diagnostic imaging), Lymphatic Vessels (embryology), Lymphatic Vessels (pathology), Lymphedema (diagnostic imaging), Lymphedema (genetics), Lymphedema (physiopathology), Male, Middle Aged, Mutagenesis, Insertional, Mutation, Missense, Saphenous Vein (diagnostic imaging), Saphenous Vein (physiopathology), Ultrasonography, Doppler, Color, Varicose Veins (diagnostic imaging), Varicose Veins (genetics), Varicose Veins (physiopathology), Veins (embryology).
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- blood supply : Leg.
- diagnostic imaging : Leg, Lymphatic Abnormalities, Lymphatic Vessels, Lymphedema, Saphenous Vein, Varicose Veins.
- embryology : Lymphatic Vessels, Veins.
- genetics : Chromosomes, Human, Pair 16, Lymphatic Abnormalities, Lymphedema, Varicose Veins.
- pathology : Lymphatic Vessels.
- physiopathology : Lymphatic Abnormalities, Lymphedema, Saphenous Vein, Varicose Veins.
- Adult, Aged, Female, Genes, Dominant, Humans, Male, Middle Aged, Mutagenesis, Insertional, Mutation, Missense, Ultrasonography, Doppler, Color.
Abstract
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.
DOI: 10.1161/CIRCULATIONAHA.106.675348
PubMed: 17372167
Links toward previous steps (curation, corpus...)
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pubmed:17372167Le document en format XML
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Mellor</name><affiliation wicri:level="4"><nlm:affiliation>Cardiac & Vascular Sciences, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cardiac & Vascular Sciences, St George's, University of London, Cranmer Terrace, London, SW17 0RE</wicri:regionArea><orgName type="university">Université de Londres</orgName><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="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><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></author><author><name sortKey="French, Jane" sort="French, Jane" uniqKey="French J" first="Jane" last="French">Jane French</name></author><author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J Rodney" last="Levick">J Rodney Levick</name></author><author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G" last="Burnand">Kevin G. Burnand</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author></analytic><series><title level="j">Circulation</title><idno type="eISSN">1524-4539</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosomes, Human, Pair 16 (genetics)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Genes, Dominant</term><term>Humans</term><term>Leg (blood supply)</term><term>Leg (diagnostic imaging)</term><term>Lymphatic Abnormalities (diagnostic imaging)</term><term>Lymphatic Abnormalities (genetics)</term><term>Lymphatic Abnormalities (physiopathology)</term><term>Lymphatic Vessels (diagnostic imaging)</term><term>Lymphatic Vessels (embryology)</term><term>Lymphatic Vessels (pathology)</term><term>Lymphedema (diagnostic imaging)</term><term>Lymphedema (genetics)</term><term>Lymphedema (physiopathology)</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Mutation, Missense</term><term>Saphenous Vein (diagnostic imaging)</term><term>Saphenous Vein (physiopathology)</term><term>Ultrasonography, Doppler, Color</term><term>Varicose Veins (diagnostic imaging)</term><term>Varicose Veins (genetics)</term><term>Varicose Veins (physiopathology)</term><term>Veins (embryology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Chromosomes humains de la paire 16 (génétique)</term><term>Facteurs de transcription Forkhead (génétique)</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Jambe ()</term><term>Jambe (imagerie diagnostique)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (imagerie diagnostique)</term><term>Lymphoedème (physiopathologie)</term><term>Malformations lymphatiques (génétique)</term><term>Malformations lymphatiques (imagerie diagnostique)</term><term>Malformations lymphatiques (physiopathologie)</term><term>Mutagenèse par insertion</term><term>Mutation faux-sens</term><term>Mâle</term><term>Sujet âgé</term><term>Vaisseaux lymphatiques (anatomopathologie)</term><term>Vaisseaux lymphatiques (embryologie)</term><term>Vaisseaux lymphatiques (imagerie diagnostique)</term><term>Varices (génétique)</term><term>Varices (imagerie diagnostique)</term><term>Varices (physiopathologie)</term><term>Veine saphène (imagerie diagnostique)</term><term>Veine saphène (physiopathologie)</term><term>Veines (embryologie)</term><term>Échographie-doppler couleur</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Vaisseaux lymphatiques</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Leg</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Leg</term><term>Lymphatic Abnormalities</term><term>Lymphatic Vessels</term><term>Lymphedema</term><term>Saphenous Vein</term><term>Varicose Veins</term></keywords><keywords scheme="MESH" qualifier="embryologie" xml:lang="fr"><term>Vaisseaux lymphatiques</term><term>Veines</term></keywords><keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Lymphatic Vessels</term><term>Veins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term><term>Lymphatic Abnormalities</term><term>Lymphedema</term><term>Varicose Veins</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term><term>Facteurs de transcription Forkhead</term><term>Lymphoedème</term><term>Malformations lymphatiques</term><term>Varices</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Jambe</term><term>Lymphoedème</term><term>Malformations lymphatiques</term><term>Vaisseaux lymphatiques</term><term>Varices</term><term>Veine saphène</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphatic Vessels</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Lymphoedème</term><term>Malformations lymphatiques</term><term>Varices</term><term>Veine saphène</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lymphatic Abnormalities</term><term>Lymphedema</term><term>Saphenous Vein</term><term>Varicose Veins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Mutation, Missense</term><term>Ultrasonography, Doppler, Color</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Jambe</term><term>Mutagenèse par insertion</term><term>Mutation faux-sens</term><term>Mâle</term><term>Sujet âgé</term><term>Échographie-doppler couleur</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17372167</PMID><DateCreated><Year>2007</Year><Month>04</Month><Day>10</Day></DateCreated><DateCompleted><Year>2007</Year><Month>05</Month><Day>07</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1524-4539</ISSN><JournalIssue CitedMedium="Internet"><Volume>115</Volume><Issue>14</Issue><PubDate><Year>2007</Year><Month>Apr</Month><Day>10</Day></PubDate></JournalIssue><Title>Circulation</Title><ISOAbbreviation>Circulation</ISOAbbreviation></Journal><ArticleTitle>Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.</ArticleTitle><Pagination><MedlinePgn>1912-20</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="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.</AbstractText><AbstractText Label="METHODS AND RESULTS" NlmCategory="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.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mellor</LastName><ForeName>Russell H</ForeName><Initials>RH</Initials><AffiliationInfo><Affiliation>Cardiac & Vascular Sciences, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Stanton</LastName><ForeName>Anthony W B</ForeName><Initials>AW</Initials></Author><Author ValidYN="Y"><LastName>French</LastName><ForeName>Jane</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Smith</LastName><ForeName>Alberto</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Levick</LastName><ForeName>J Rodney</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Burnand</LastName><ForeName>Kevin G</ForeName><Initials>KG</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials></Author><Author ValidYN="Y"><CollectiveName>Lymphoedema Research Consortium</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2007</Year><Month>03</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Circulation</MedlineTA><NlmUniqueID>0147763</NlmUniqueID><ISSNLinking>0009-7322</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002885" MajorTopicYN="N">Chromosomes, Human, Pair 16</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007866" MajorTopicYN="N">Leg</DescriptorName><QualifierName UI="Q000098" MajorTopicYN="N">blood supply</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D044148" MajorTopicYN="N">Lymphatic Abnormalities</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D042601" MajorTopicYN="N">Lymphatic Vessels</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016254" MajorTopicYN="N">Mutagenesis, Insertional</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012501" MajorTopicYN="N">Saphenous Vein</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018615" MajorTopicYN="N">Ultrasonography, Doppler, Color</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014648" MajorTopicYN="N">Varicose Veins</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014680" MajorTopicYN="N">Veins</DescriptorName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>3</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>5</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>3</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17372167</ArticleId><ArticleId IdType="pii">CIRCULATIONAHA.106.675348</ArticleId><ArticleId IdType="doi">10.1161/CIRCULATIONAHA.106.675348</ArticleId></ArticleIdList></PubmedData></pubmed><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><noCountry><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></noCountry><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. 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