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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Variable Somatic <bold><italic>TIE2</italic></bold> Mutations in Half of Sporadic Venous Malformations</title><author><name sortKey="Soblet, J" sort="Soblet, J" uniqKey="Soblet J" first="J." last="Soblet">J. Soblet</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Limaye, N" sort="Limaye, N" uniqKey="Limaye N" first="N." last="Limaye">N. Limaye</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Uebelhoer, M" sort="Uebelhoer, M" uniqKey="Uebelhoer M" first="M." last="Uebelhoer">M. Uebelhoer</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</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, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université catholique de Louvain, 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, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23801934</idno><idno type="pmc">3666452</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666452</idno><idno type="RBID">PMC:3666452</idno><idno type="doi">10.1159/000348327</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">003100</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003100</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Variable Somatic <bold><italic>TIE2</italic></bold> Mutations in Half of Sporadic Venous Malformations</title><author><name sortKey="Soblet, J" sort="Soblet, J" uniqKey="Soblet J" first="J." last="Soblet">J. Soblet</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Limaye, N" sort="Limaye, N" uniqKey="Limaye N" first="N." last="Limaye">N. Limaye</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Uebelhoer, M" sort="Uebelhoer, M" uniqKey="Uebelhoer M" first="M." last="Uebelhoer">M. Uebelhoer</name><affiliation><nlm:aff id="aff1">Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</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, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université catholique de Louvain, 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, 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>Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in <italic>TIE2</italic>. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in <italic>TIE2</italic>. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand-independent receptor hyperphosphorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of <italic>TIE2</italic> in cDNA from resected VMs by direct sequencing. We detected <italic>TIE2</italic> mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular <italic>TIE2</italic> mutations in sporadic VMs, including 3 that cause premature protein truncation.</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">23801934</article-id><article-id pub-id-type="pmc">3666452</article-id><article-id pub-id-type="doi">10.1159/000348327</article-id><article-id pub-id-type="publisher-id">msy-0004-0179</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Variable Somatic <bold><italic>TIE2</italic></bold> Mutations in Half of Sporadic Venous Malformations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Soblet</surname><given-names>J.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Limaye</surname><given-names>N.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Uebelhoer</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</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="aff2"><sup>b</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="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="aff1"><sup>a</sup>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</aff><aff id="aff2"><sup>b</sup>Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium</aff><author-notes><corresp id="cor1">*Dr. Miikka Vikkula, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, BE-1200 Brussels (Belgium), E-Mail <email>miikka.vikkula@uclouvain.be</email></corresp></author-notes><pub-date pub-type="ppub"><month>4</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>26</day><month>3</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>26</day><month>3</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>4</issue><fpage>179</fpage><lpage>183</lpage><history><date date-type="accepted"><day>19</day><month>9</month><year>2012</year></date></history><permissions><copyright-statement>Copyright © 2013 by S. Karger AG, Basel</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p>Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in <italic>TIE2</italic>. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in <italic>TIE2</italic>. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand-independent receptor hyperphosphorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of <italic>TIE2</italic> in cDNA from resected VMs by direct sequencing. We detected <italic>TIE2</italic> mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular <italic>TIE2</italic> mutations in sporadic VMs, including 3 that cause premature protein truncation.</p></abstract><kwd-group><title>Key Words
</title><kwd>Hyperphosphorylation</kwd><kwd>Receptor tyrosine kinase</kwd><kwd>Somatic mutation</kwd><kwd>Sporadic</kwd><kwd>TIE2/TEK</kwd><kwd>Vascular malformation</kwd><kwd>Venous malformation
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