LymphedemaV1, France, Analysis, bibRecord, 000155

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

Identifieur interne : 000155 ( France/Analysis ); précédent : 000154; suivant : 000156

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

Auteurs : A. Mendola [Belgique] ; M. J. Schlögel [Belgique] ; A. Ghalamkarpour [Belgique] ; A. Irrthum [Belgique] ; H. L. Nguyen [Belgique] ; E. Fastré [Belgique] ; A. Bygum [Danemark] ; C. Van Der Vleuten [Pays-Bas] ; C. Fagerberg [Danemark] ; E. Baselga [Espagne] ; I. Quere [France] ; J. B. Mulliken [États-Unis] ; L. M. Boon [Belgique] ; P. Brouillard [Belgique] ; M. Vikkula [Belgique]

Source :

Molecular Syndromology [ 1661-8769 ] ; 2013.

RBID : PMC:3776465

Abstract

Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for FLT4, FOXC2, SOX18,CCBE1, and PTPN14. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776465

DOI: 10.1159/000354097
PubMed: 24167460
PubMed Central: 3776465

Affiliations:

Links to Exploration step

PMC:3776465

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema</title>
<author><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlogel, M J" sort="Schlogel, M J" uniqKey="Schlogel M" first="M. J." last="Schlögel">M. J. Schlögel</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A." last="Ghalamkarpour">A. Ghalamkarpour</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff5">Breast International Group, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Breast International Group, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nguyen, H L" sort="Nguyen, H L" uniqKey="Nguyen H" first="H. L." last="Nguyen">H. L. Nguyen</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E." last="Fastré">E. Fastré</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A." last="Bygum">A. Bygum</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Dermatology and Allergy Centre, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Der Vleuten, C" sort="Van Der Vleuten, C" uniqKey="Van Der Vleuten C" first="C." last="Van Der Vleuten">C. Van Der Vleuten</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C." last="Fagerberg">C. Fagerberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E." last="Baselga">E. Baselga</name>
<affiliation wicri:level="4"><nlm:aff id="aff9">Pediatric Dermatology Unit, Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Pediatric Dermatology Unit, Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
<settlement type="city">Barcelone</settlement>
</placeName>
<orgName type="university">Université autonome de Barcelone</orgName>
</affiliation>
</author>
<author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
<affiliation wicri:level="3"><nlm:aff id="aff10">Department of Vascular Medicine, Montpellier University Hospital, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Vascular Medicine, Montpellier University Hospital, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass.</wicri:regionArea>
<wicri:noRegion>Mass.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff4">Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24167460</idno>
<idno type="pmc">3776465</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776465</idno>
<idno type="RBID">PMC:3776465</idno>
<idno type="doi">10.1159/000354097</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">003101</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003101</idno>
<idno type="wicri:Area/Pmc/Curation">003100</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003100</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002130</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002130</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001865</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001865</idno>
<idno type="wicri:Area/PubMed/Curation">001865</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001865</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001865</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001865</idno>
<idno type="wicri:Area/Ncbi/Merge">005E76</idno>
<idno type="wicri:Area/Ncbi/Curation">005E76</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">005E76</idno>
<idno type="wicri:doubleKey">1661-8769:2013:Mendola A:mutations:in:the</idno>
<idno type="wicri:Area/Main/Merge">003376</idno>
<idno type="wicri:Area/Main/Curation">003370</idno>
<idno type="wicri:Area/Main/Exploration">003370</idno>
<idno type="wicri:Area/France/Extraction">000155</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema</title>
<author><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlogel, M J" sort="Schlogel, M J" uniqKey="Schlogel M" first="M. J." last="Schlögel">M. J. Schlögel</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A." last="Ghalamkarpour">A. Ghalamkarpour</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff5">Breast International Group, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Breast International Group, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nguyen, H L" sort="Nguyen, H L" uniqKey="Nguyen H" first="H. L." last="Nguyen">H. L. Nguyen</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E." last="Fastré">E. Fastré</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A." last="Bygum">A. Bygum</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Dermatology and Allergy Centre, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Der Vleuten, C" sort="Van Der Vleuten, C" uniqKey="Van Der Vleuten C" first="C." last="Van Der Vleuten">C. Van Der Vleuten</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C." last="Fagerberg">C. Fagerberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E." last="Baselga">E. Baselga</name>
<affiliation wicri:level="4"><nlm:aff id="aff9">Pediatric Dermatology Unit, Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Pediatric Dermatology Unit, Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
<settlement type="city">Barcelone</settlement>
</placeName>
<orgName type="university">Université autonome de Barcelone</orgName>
</affiliation>
</author>
<author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
<affiliation wicri:level="3"><nlm:aff id="aff10">Department of Vascular Medicine, Montpellier University Hospital, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Vascular Medicine, Montpellier University Hospital, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass.</wicri:regionArea>
<wicri:noRegion>Mass.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Vascular Anomalies, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff4">Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Syndromology</title>
<idno type="ISSN">1661-8769</idno>
<idno type="eISSN">1661-8777</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in <italic>FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1</italic>
, and <italic>PTPN14</italic>
. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for <italic>FLT4, FOXC2, SOX18,</italic>
<italic>CCBE1</italic>
, and <italic>PTPN14</italic>
. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>Danemark</li>
<li>Espagne</li>
<li>France</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region><li>Catalogne</li>
<li>Gueldre</li>
<li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
<li>Région de Bruxelles-Capitale</li>
</region>
<settlement><li>Barcelone</li>
<li>Bruxelles</li>
<li>Louvain-la-Neuve</li>
<li>Montpellier</li>
<li>Nimègue</li>
</settlement>
<orgName><li>Université autonome de Barcelone</li>
<li>Université catholique de Louvain</li>
</orgName>
</list>
<tree><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name>
</region>
<name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L. M." last="Boon">L. M. Boon</name>
<name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name>
<name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E." last="Fastré">E. Fastré</name>
<name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A." last="Ghalamkarpour">A. Ghalamkarpour</name>
<name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name>
<name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name>
<name sortKey="Nguyen, H L" sort="Nguyen, H L" uniqKey="Nguyen H" first="H. L." last="Nguyen">H. L. Nguyen</name>
<name sortKey="Schlogel, M J" sort="Schlogel, M J" uniqKey="Schlogel M" first="M. J." last="Schlögel">M. J. Schlögel</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
</country>
<country name="Danemark"><noRegion><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A." last="Bygum">A. Bygum</name>
</noRegion>
<name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C." last="Fagerberg">C. Fagerberg</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Der Vleuten, C" sort="Van Der Vleuten, C" uniqKey="Van Der Vleuten C" first="C." last="Van Der Vleuten">C. Van Der Vleuten</name>
</region>
</country>
<country name="Espagne"><region name="Catalogne"><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E." last="Baselga">E. Baselga</name>
</region>
</country>
<country name="France"><region name="Occitanie (région administrative)"><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name>
</region>
</country>
<country name="États-Unis"><noRegion><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J. B." last="Mulliken">J. B. Mulliken</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000155 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000155 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:3776465
   |texte=   Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:24167460" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema

Source :

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.