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<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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A." last="Ghalamkarpour">A. Ghalamkarpour</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Breast International Group, Brussels, Belgium</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E." last="Fastré">E. Fastré</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A." last="Bygum">A. Bygum</name><affiliation><nlm:aff id="aff6">Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark</nlm:aff></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><nlm:aff id="aff8">Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C." last="Fagerberg">C. Fagerberg</name><affiliation><nlm:aff id="aff7">Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E." last="Baselga">E. Baselga</name><affiliation><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></affiliation></author><author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name><affiliation><nlm:aff id="aff10">Department of Vascular Medicine, Montpellier University Hospital, Montpellier, France</nlm:aff></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><nlm:aff id="aff11">Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff></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></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A." last="Ghalamkarpour">A. Ghalamkarpour</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Irrthum, A" sort="Irrthum, A" uniqKey="Irrthum A" first="A." last="Irrthum">A. Irrthum</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Breast International Group, Brussels, Belgium</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Fastre, E" sort="Fastre, E" uniqKey="Fastre E" first="E." last="Fastré">E. Fastré</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bygum, A" sort="Bygum, A" uniqKey="Bygum A" first="A." last="Bygum">A. Bygum</name><affiliation><nlm:aff id="aff6">Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark</nlm:aff></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><nlm:aff id="aff8">Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Fagerberg, C" sort="Fagerberg, C" uniqKey="Fagerberg C" first="C." last="Fagerberg">C. Fagerberg</name><affiliation><nlm:aff id="aff7">Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E." last="Baselga">E. Baselga</name><affiliation><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></affiliation></author><author><name sortKey="Quere, I" sort="Quere, I" uniqKey="Quere I" first="I." last="Quere">I. Quere</name><affiliation><nlm:aff id="aff10">Department of Vascular Medicine, Montpellier University Hospital, Montpellier, France</nlm:aff></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><nlm:aff id="aff11">Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA</nlm:aff></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><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P." last="Brouillard">P. Brouillard</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Mol Syndromol</journal-id><journal-id journal-id-type="iso-abbrev">Mol Syndromol</journal-id><journal-id journal-id-type="publisher-id">MSY</journal-id><journal-title-group><journal-title>Molecular Syndromology</journal-title></journal-title-group><issn pub-type="ppub">1661-8769</issn><issn pub-type="epub">1661-8777</issn><publisher><publisher-name>S. Karger AG</publisher-name><publisher-loc>Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24167460</article-id><article-id pub-id-type="pmc">3776465</article-id><article-id pub-id-type="doi">10.1159/000354097</article-id><article-id pub-id-type="publisher-id">msy-0004-0257</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema</article-title></title-group><contrib-group><contrib contrib-type="author"><collab>The Lymphedema Research Group</collab></contrib><contrib contrib-type="author"><name><surname>Mendola</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schlögel</surname><given-names>M.J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ghalamkarpour</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Irrthum</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref><xref ref-type="aff" rid="aff5"><sup>e</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nguyen</surname><given-names>H.L.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fastré</surname><given-names>E.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bygum</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="aff6"><sup>f</sup></xref></contrib><contrib contrib-type="author"><name><surname>van der Vleuten</surname><given-names>C.</given-names></name><xref ref-type="aff" rid="aff8"><sup>h</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fagerberg</surname><given-names>C.</given-names></name><xref ref-type="aff" rid="aff7"><sup>g</sup></xref></contrib><contrib contrib-type="author"><name><surname>Baselga</surname><given-names>E.</given-names></name><xref ref-type="aff" rid="aff9"><sup>i</sup></xref></contrib><contrib contrib-type="author"><name><surname>Quere</surname><given-names>I.</given-names></name><xref ref-type="aff" rid="aff10"><sup>j</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mulliken</surname><given-names>J.B.</given-names></name><xref ref-type="aff" rid="aff11"><sup>k</sup></xref></contrib><contrib contrib-type="author"><name><surname>Boon</surname><given-names>L.M.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref><xref ref-type="aff" rid="aff3"><sup>c</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brouillard</surname><given-names>P.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref><xref ref-type="aff" rid="aff2"><sup>b</sup></xref><xref ref-type="aff" rid="aff3"><sup>c</sup></xref><xref ref-type="aff" rid="aff4"><sup>d</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="aff1"><sup>a</sup>Laboratory of Human Molecular Genetics, de Duve Institute, Centres, Brussels, Belgium</aff><aff id="aff2"><sup>b</sup>Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Centres, Brussels, Belgium</aff><aff id="aff3"><sup>c</sup>Vascular Anomalies, Université catholique de Louvain, Brussels, Belgium</aff><aff id="aff4"><sup>d</sup>Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium</aff><aff id="aff5"><sup>e</sup>Breast International Group, Brussels, Belgium</aff><aff id="aff6"><sup>f</sup>Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark</aff><aff id="aff7"><sup>g</sup>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</aff><aff id="aff8"><sup>h</sup>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</aff><aff id="aff9"><sup>i</sup>Pediatric Dermatology Unit, Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain</aff><aff id="aff10"><sup>j</sup>Department of Vascular Medicine, Montpellier University Hospital, Montpellier, France</aff><aff id="aff11"><sup>k</sup>Department of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA</aff><author-notes><corresp id="cor1">*Miikka Vikkula, MD, PhD, Professor of Human Genetics, Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, BE-1200 Bussels (Belgium), E-Mail <email>miikka.vikkula@uclouvain.be</email></corresp><fn fn-type="other"><p>A.M. and M.J.S. contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>9</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>21</day><month>8</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>21</day><month>8</month><year>2013</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>4</volume><issue>6</issue><fpage>257</fpage><lpage>266</lpage><history><date date-type="accepted"><day>6</day><month>6</month><year>2013</year></date></history><permissions><copyright-statement>Copyright © 2013 by S. Karger AG, Basel</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><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></abstract><kwd-group><title>Key Words</title><kwd>Functional pathway</kwd><kwd>Genetic</kwd><kwd>Mutation</kwd><kwd>Phenotype</kwd></kwd-group><counts><fig-count count="2"></fig-count><table-count count="4"></table-count><ref-count count="56"></ref-count><page-count count="10"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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