Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without <bold><italic>CCBE1</italic></bold> Mutations</title><author><name sortKey="Alders, M" sort="Alders, M" uniqKey="Alders M" first="M." last="Alders">M. Alders</name><affiliation><nlm:aff id="aff1">Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name><affiliation><nlm:aff id="aff2">Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L." last="Adès">L. Adès</name><affiliation><nlm:aff id="aff3">Paediatrics and Child Health, University of Sydney, Sydney, N.S.W., Australia</nlm:aff></affiliation></author><author><name sortKey="Al Gazali, L" sort="Al Gazali, L" uniqKey="Al Gazali L" first="L." last="Al Gazali">L. Al Gazali</name><affiliation><nlm:aff id="aff4">Department of Paediatrics, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff></affiliation></author><author><name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C." last="Bellini">C. Bellini</name><affiliation><nlm:aff id="aff5">Neonatal Intensive Care Unit, Department of Paediatrics, Gaslini Institute, University of Genoa, Genoa, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name><affiliation><nlm:aff id="aff6">Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P." last="Edery">P. Edery</name><affiliation><nlm:aff id="aff7">Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Université Lyon 1, Inserm U1028, CNRS UMR5292, CRNL, TIGER, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Frank, U" sort="Frank, U" uniqKey="Frank U" first="U." last="Frank">U. Frank</name><affiliation><nlm:aff id="aff9">Sozialpädiatrisches Zentrum, Braunschweig, University Witten/Herdecke, Witten, Germany</nlm:aff></affiliation></author><author><name sortKey="Hornshuh, F" sort="Hornshuh, F" uniqKey="Hornshuh F" first="F." last="Hornshuh">F. Hornshuh</name><affiliation><nlm:aff id="aff10">Department of Neonatology and Pediatrics Intensive Care, Vest. Children's Hospital Datteln, University Witten/Herdecke, Witten, Germany</nlm:aff></affiliation></author><author><name sortKey="Huisman, S A" sort="Huisman, S A" uniqKey="Huisman S" first="S. A." last="Huisman">S. A. Huisman</name><affiliation><nlm:aff id="aff11">Prinsenstichting, Centre for People with Intellectual Disabilities, Purmerend, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jagadeesh, S" sort="Jagadeesh, S" uniqKey="Jagadeesh S" first="S." last="Jagadeesh">S. Jagadeesh</name><affiliation><nlm:aff id="aff12">Genetic Counselling Department, Foetal Care Research, Chennai, India</nlm:aff></affiliation></author><author><name sortKey="Kayserili, H" sort="Kayserili, H" uniqKey="Kayserili H" first="H." last="Kayserili">H. Kayserili</name><affiliation><nlm:aff id="aff13">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Keng, W T" sort="Keng, W T" uniqKey="Keng W" first="W. T." last="Keng">W. T. Keng</name><affiliation><nlm:aff id="aff14">Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Lev, D" sort="Lev, D" uniqKey="Lev D" first="D." last="Lev">D. Lev</name><affiliation><nlm:aff id="aff15">Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel</nlm:aff></affiliation></author><author><name sortKey="Prada, C E" sort="Prada, C E" uniqKey="Prada C" first="C. E." last="Prada">C. E. Prada</name><affiliation><nlm:aff id="aff16">Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Sampson, J R" sort="Sampson, J R" uniqKey="Sampson J" first="J. R." last="Sampson">J. R. Sampson</name><affiliation><nlm:aff id="aff17">Institute of Medical Genetics, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidtke, J" sort="Schmidtke, J" uniqKey="Schmidtke J" first="J." last="Schmidtke">J. Schmidtke</name><affiliation><nlm:aff id="aff18">Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Shashi, V" sort="Shashi, V" uniqKey="Shashi V" first="V." last="Shashi">V. Shashi</name><affiliation><nlm:aff id="aff19">Division of Medical Genetics, Duke University, Durham, N.C., USA</nlm:aff></affiliation></author><author><name sortKey="Van Bever, Y" sort="Van Bever, Y" uniqKey="Van Bever Y" first="Y." last="Van Bever">Y. Van Bever</name><affiliation><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Aa, N" sort="Van Der Aa, N" uniqKey="Van Der Aa N" first="N." last="Van Der Aa">N. Van Der Aa</name><affiliation><nlm:aff id="aff21">Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Verhagen, J M" sort="Verhagen, J M" uniqKey="Verhagen J" first="J. M." last="Verhagen">J. M. Verhagen</name><affiliation><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Verheij, J B" sort="Verheij, J B" uniqKey="Verheij J" first="J. B." last="Verheij">J. B. Verheij</name><affiliation><nlm:aff id="aff22">Department of Genetics, University Medical Centre Groningen, Groningen, Amsterdam, The Netherlands</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="aff2">Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">WELBIO-Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R. C." last="Hennekam">R. C. Hennekam</name><affiliation><nlm:aff id="aff23">Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23653581</idno><idno type="pmc">3638933</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638933</idno><idno type="RBID">PMC:3638933</idno><idno type="doi">10.1159/000342486</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">003098</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003098</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without <bold><italic>CCBE1</italic></bold> Mutations</title><author><name sortKey="Alders, M" sort="Alders, M" uniqKey="Alders M" first="M." last="Alders">M. Alders</name><affiliation><nlm:aff id="aff1">Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name><affiliation><nlm:aff id="aff2">Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L." last="Adès">L. Adès</name><affiliation><nlm:aff id="aff3">Paediatrics and Child Health, University of Sydney, Sydney, N.S.W., Australia</nlm:aff></affiliation></author><author><name sortKey="Al Gazali, L" sort="Al Gazali, L" uniqKey="Al Gazali L" first="L." last="Al Gazali">L. Al Gazali</name><affiliation><nlm:aff id="aff4">Department of Paediatrics, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff></affiliation></author><author><name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C." last="Bellini">C. Bellini</name><affiliation><nlm:aff id="aff5">Neonatal Intensive Care Unit, Department of Paediatrics, Gaslini Institute, University of Genoa, Genoa, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name><affiliation><nlm:aff id="aff6">Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P." last="Edery">P. Edery</name><affiliation><nlm:aff id="aff7">Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Université Lyon 1, Inserm U1028, CNRS UMR5292, CRNL, TIGER, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Frank, U" sort="Frank, U" uniqKey="Frank U" first="U." last="Frank">U. Frank</name><affiliation><nlm:aff id="aff9">Sozialpädiatrisches Zentrum, Braunschweig, University Witten/Herdecke, Witten, Germany</nlm:aff></affiliation></author><author><name sortKey="Hornshuh, F" sort="Hornshuh, F" uniqKey="Hornshuh F" first="F." last="Hornshuh">F. Hornshuh</name><affiliation><nlm:aff id="aff10">Department of Neonatology and Pediatrics Intensive Care, Vest. Children's Hospital Datteln, University Witten/Herdecke, Witten, Germany</nlm:aff></affiliation></author><author><name sortKey="Huisman, S A" sort="Huisman, S A" uniqKey="Huisman S" first="S. A." last="Huisman">S. A. Huisman</name><affiliation><nlm:aff id="aff11">Prinsenstichting, Centre for People with Intellectual Disabilities, Purmerend, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jagadeesh, S" sort="Jagadeesh, S" uniqKey="Jagadeesh S" first="S." last="Jagadeesh">S. Jagadeesh</name><affiliation><nlm:aff id="aff12">Genetic Counselling Department, Foetal Care Research, Chennai, India</nlm:aff></affiliation></author><author><name sortKey="Kayserili, H" sort="Kayserili, H" uniqKey="Kayserili H" first="H." last="Kayserili">H. Kayserili</name><affiliation><nlm:aff id="aff13">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Keng, W T" sort="Keng, W T" uniqKey="Keng W" first="W. T." last="Keng">W. T. Keng</name><affiliation><nlm:aff id="aff14">Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Lev, D" sort="Lev, D" uniqKey="Lev D" first="D." last="Lev">D. Lev</name><affiliation><nlm:aff id="aff15">Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel</nlm:aff></affiliation></author><author><name sortKey="Prada, C E" sort="Prada, C E" uniqKey="Prada C" first="C. E." last="Prada">C. E. Prada</name><affiliation><nlm:aff id="aff16">Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Sampson, J R" sort="Sampson, J R" uniqKey="Sampson J" first="J. R." last="Sampson">J. R. Sampson</name><affiliation><nlm:aff id="aff17">Institute of Medical Genetics, Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidtke, J" sort="Schmidtke, J" uniqKey="Schmidtke J" first="J." last="Schmidtke">J. Schmidtke</name><affiliation><nlm:aff id="aff18">Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Shashi, V" sort="Shashi, V" uniqKey="Shashi V" first="V." last="Shashi">V. Shashi</name><affiliation><nlm:aff id="aff19">Division of Medical Genetics, Duke University, Durham, N.C., USA</nlm:aff></affiliation></author><author><name sortKey="Van Bever, Y" sort="Van Bever, Y" uniqKey="Van Bever Y" first="Y." last="Van Bever">Y. Van Bever</name><affiliation><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Aa, N" sort="Van Der Aa, N" uniqKey="Van Der Aa N" first="N." last="Van Der Aa">N. Van Der Aa</name><affiliation><nlm:aff id="aff21">Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Verhagen, J M" sort="Verhagen, J M" uniqKey="Verhagen J" first="J. M." last="Verhagen">J. M. Verhagen</name><affiliation><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Verheij, J B" sort="Verheij, J B" uniqKey="Verheij J" first="J. B." last="Verheij">J. B. Verheij</name><affiliation><nlm:aff id="aff22">Department of Genetics, University Medical Centre Groningen, Groningen, Amsterdam, The Netherlands</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="aff2">Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">WELBIO-Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R. C." last="Hennekam">R. C. Hennekam</name><affiliation><nlm:aff id="aff23">Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</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="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene <italic>CCBE1</italic> have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a <italic>CCBE1</italic> mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a <italic>CCBE1</italic> mutation. We report here the results of 13 <italic>CCBE1</italic> positive patients, 16 <italic>CCBE1</italic> negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no <italic>CCBE1</italic> mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for <italic>CCBE1</italic> mutations, and no mutation was detected in this group. Our results suggest that (1) <italic>CCBE1</italic> mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without <italic>CCBE1</italic> mutations.</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">23653581</article-id><article-id pub-id-type="pmc">3638933</article-id><article-id pub-id-type="doi">10.1159/000342486</article-id><article-id pub-id-type="publisher-id">msy-0004-0107</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without <bold><italic>CCBE1</italic></bold> Mutations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Alders</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mendola</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref></contrib><contrib contrib-type="author"><name><surname>Adès</surname><given-names>L.</given-names></name><xref ref-type="aff" rid="aff3"><sup>c</sup></xref></contrib><contrib contrib-type="author"><name><surname>Al Gazali</surname><given-names>L.</given-names></name><xref ref-type="aff" rid="aff4"><sup>d</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bellini</surname><given-names>C.</given-names></name><xref ref-type="aff" rid="aff5"><sup>e</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dallapiccola</surname><given-names>B.</given-names></name><xref ref-type="aff" rid="aff6"><sup>f</sup></xref></contrib><contrib contrib-type="author"><name><surname>Edery</surname><given-names>P.</given-names></name><xref ref-type="aff" rid="aff7"><sup>g</sup></xref><xref ref-type="aff" rid="aff8"><sup>h</sup></xref></contrib><contrib contrib-type="author"><name><surname>Frank</surname><given-names>U.</given-names></name><xref ref-type="aff" rid="aff9"><sup>i</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hornshuh</surname><given-names>F.</given-names></name><xref ref-type="aff" rid="aff10"><sup>j</sup></xref></contrib><contrib contrib-type="author"><name><surname>Huisman</surname><given-names>S.A.</given-names></name><xref ref-type="aff" rid="aff11"><sup>k</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jagadeesh</surname><given-names>S.</given-names></name><xref ref-type="aff" rid="aff12"><sup>l</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kayserili</surname><given-names>H.</given-names></name><xref ref-type="aff" rid="aff13"><sup>m</sup></xref></contrib><contrib contrib-type="author"><name><surname>Keng</surname><given-names>W.T.</given-names></name><xref ref-type="aff" rid="aff14"><sup>n</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lev</surname><given-names>D.</given-names></name><xref ref-type="aff" rid="aff15"><sup>o</sup></xref></contrib><contrib contrib-type="author"><name><surname>Prada</surname><given-names>C.E.</given-names></name><xref ref-type="aff" rid="aff16"><sup>p</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sampson</surname><given-names>J.R.</given-names></name><xref ref-type="aff" rid="aff17"><sup>q</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schmidtke</surname><given-names>J.</given-names></name><xref ref-type="aff" rid="aff18"><sup>r</sup></xref></contrib><contrib contrib-type="author"><name><surname>Shashi</surname><given-names>V.</given-names></name><xref ref-type="aff" rid="aff19"><sup>s</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Bever</surname><given-names>Y.</given-names></name><xref ref-type="aff" rid="aff20"><sup>t</sup></xref></contrib><contrib contrib-type="author"><name><surname>Van der Aa</surname><given-names>N.</given-names></name><xref ref-type="aff" rid="aff21"><sup>u</sup></xref></contrib><contrib contrib-type="author"><name><surname>Verhagen</surname><given-names>J.M.</given-names></name><xref ref-type="aff" rid="aff20"><sup>t</sup></xref></contrib><contrib contrib-type="author"><name><surname>Verheij</surname><given-names>J.B.</given-names></name><xref ref-type="aff" rid="aff22"><sup>v</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref><xref ref-type="aff" rid="aff24"><sup>x</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hennekam</surname><given-names>R.C.</given-names></name><xref ref-type="aff" rid="aff23"><sup>w</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="aff1"><sup>a</sup>Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</aff><aff id="aff2"><sup>b</sup>Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</aff><aff id="aff3"><sup>c</sup>Paediatrics and Child Health, University of Sydney, Sydney, N.S.W., Australia</aff><aff id="aff4"><sup>d</sup>Department of Paediatrics, United Arab Emirates University, Al-Ain, United Arab Emirates</aff><aff id="aff5"><sup>e</sup>Neonatal Intensive Care Unit, Department of Paediatrics, Gaslini Institute, University of Genoa, Genoa, Rome, Italy</aff><aff id="aff6"><sup>f</sup>Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy</aff><aff id="aff7"><sup>g</sup>Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, Lyon, France</aff><aff id="aff8"><sup>h</sup>Université Lyon 1, Inserm U1028, CNRS UMR5292, CRNL, TIGER, Lyon, France</aff><aff id="aff9"><sup>i</sup>Sozialpädiatrisches Zentrum, Braunschweig, University Witten/Herdecke, Witten, Germany</aff><aff id="aff10"><sup>j</sup>Department of Neonatology and Pediatrics Intensive Care, Vest. Children's Hospital Datteln, University Witten/Herdecke, Witten, Germany</aff><aff id="aff11"><sup>k</sup>Prinsenstichting, Centre for People with Intellectual Disabilities, Purmerend, The Netherlands</aff><aff id="aff12"><sup>l</sup>Genetic Counselling Department, Foetal Care Research, Chennai, India</aff><aff id="aff13"><sup>m</sup>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey</aff><aff id="aff14"><sup>n</sup>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia</aff><aff id="aff15"><sup>o</sup>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel</aff><aff id="aff16"><sup>p</sup>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</aff><aff id="aff17"><sup>q</sup>Institute of Medical Genetics, Cardiff, UK</aff><aff id="aff18"><sup>r</sup>Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany</aff><aff id="aff19"><sup>s</sup>Division of Medical Genetics, Duke University, Durham, N.C., USA</aff><aff id="aff20"><sup>t</sup>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</aff><aff id="aff21"><sup>u</sup>Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium</aff><aff id="aff22"><sup>v</sup>Department of Genetics, University Medical Centre Groningen, Groningen, Amsterdam, The Netherlands</aff><aff id="aff23"><sup>w</sup>Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</aff><aff id="aff24"><sup>x</sup>WELBIO-Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</aff><author-notes><corresp id="cor1">*Dr. R.C. Hennekam, Department of Paediatrics, Room H7-236, AMC, Meibergdreef 9, NL-1105 AZ Amsterdam (The Netherlands), Tel. +31 205 668 844, E-Mail <email>r.c.hennekam@amc.nl</email></corresp></author-notes><pub-date pub-type="ppub"><month>3</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>2</day><month>10</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>2</day><month>10</month><year>2012</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>4</volume><issue>3</issue><fpage>107</fpage><lpage>113</lpage><history><date date-type="accepted"><day>31</day><month>7</month><year>2012</year></date></history><permissions><copyright-statement>Copyright © 2012 by S. Karger AG, Basel</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p>The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene <italic>CCBE1</italic> have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a <italic>CCBE1</italic> mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a <italic>CCBE1</italic> mutation. We report here the results of 13 <italic>CCBE1</italic> positive patients, 16 <italic>CCBE1</italic> negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no <italic>CCBE1</italic> mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for <italic>CCBE1</italic> mutations, and no mutation was detected in this group. Our results suggest that (1) <italic>CCBE1</italic> mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without <italic>CCBE1</italic> mutations.</p></abstract><kwd-group><title>Key Words
</title><kwd>Autosomal recessive</kwd><kwd><italic>CCBE1</italic></kwd><kwd>Genotype-phenotype</kwd><kwd>Hennekam syndrome</kwd><kwd>Lymphangiectasia</kwd><kwd>Lymphatic dysplasia</kwd><kwd>Lymphedema
</kwd></kwd-group><counts><fig-count count="2"></fig-count><table-count count="1"></table-count><ref-count count="17"></ref-count><page-count count="7"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003098 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 003098 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.31. |  |