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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Structural variation in Xq28: <italic>MECP2</italic> duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy</title><author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R" last="Oudakker">Astrid R. Oudakker</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G" last="Yntema">Helger G. Yntema</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation><nlm:aff id="aff2"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin-Dahlem,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="aff3"><institution>Service de Génétique, CHRU de Tours</institution>, Tours,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Rating, Dietz" sort="Rating, Dietz" uniqKey="Rating D" first="Dietz" last="Rating">Dietz Rating</name><affiliation><nlm:aff id="aff4"><institution>Department of Paediatric Neurology, University Children's Hospital</institution>, Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Journel, Hubert" sort="Journel, Hubert" uniqKey="Journel H" first="Hubert" last="Journel">Hubert Journel</name><affiliation><nlm:aff id="aff5"><institution>CH de Vannes, Génétique Médicale</institution>, Vannes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="aff6"><institution>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean-Michel" last="Pedespan">Jean-Michel Pedespan</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation><nlm:aff id="aff8"><institution>Service de Neuropédiatrie Hôpital Saint-Eloi</institution>, CHU de Montpellier,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation><nlm:aff id="aff9"><institution>Institute for Human Genetics, University Heidelberg</institution>, Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="O Rourke, Declan" sort="O Rourke, Declan" uniqKey="O Rourke D" first="Declan" last="O'Rourke">Declan O'Rourke</name><affiliation><nlm:aff id="aff10"><institution>Children's University Hospital, Limited Liability Company (Limited by Shares)</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation><nlm:aff id="aff10"><institution>Children's University Hospital, Limited Liability Company (Limited by Shares)</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation><nlm:aff id="aff11"><institution>Our Lady's Hospital, Crumlin and The Children's University Hospital</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name><affiliation><nlm:aff id="aff12"><institution>Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:aff id="aff13"><institution>Center for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff14"><institution>Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C J" last="Hamel">Ben C J. Hamel</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18985075</idno><idno type="pmc">2986218</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986218</idno><idno type="RBID">PMC:2986218</idno><idno type="doi">10.1038/ejhg.2008.208</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000051</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000051</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Structural variation in Xq28: <italic>MECP2</italic> duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy</title><author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R" last="Oudakker">Astrid R. Oudakker</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G" last="Yntema">Helger G. Yntema</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation><nlm:aff id="aff2"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin-Dahlem,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="aff3"><institution>Service de Génétique, CHRU de Tours</institution>, Tours,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Rating, Dietz" sort="Rating, Dietz" uniqKey="Rating D" first="Dietz" last="Rating">Dietz Rating</name><affiliation><nlm:aff id="aff4"><institution>Department of Paediatric Neurology, University Children's Hospital</institution>, Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Journel, Hubert" sort="Journel, Hubert" uniqKey="Journel H" first="Hubert" last="Journel">Hubert Journel</name><affiliation><nlm:aff id="aff5"><institution>CH de Vannes, Génétique Médicale</institution>, Vannes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="aff6"><institution>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Pedespan, Jean Michel" sort="Pedespan, Jean Michel" uniqKey="Pedespan J" first="Jean-Michel" last="Pedespan">Jean-Michel Pedespan</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Echenne, Bernard" sort="Echenne, Bernard" uniqKey="Echenne B" first="Bernard" last="Echenne">Bernard Echenne</name><affiliation><nlm:aff id="aff8"><institution>Service de Neuropédiatrie Hôpital Saint-Eloi</institution>, CHU de Montpellier,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation><nlm:aff id="aff9"><institution>Institute for Human Genetics, University Heidelberg</institution>, Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="O Rourke, Declan" sort="O Rourke, Declan" uniqKey="O Rourke D" first="Declan" last="O'Rourke">Declan O'Rourke</name><affiliation><nlm:aff id="aff10"><institution>Children's University Hospital, Limited Liability Company (Limited by Shares)</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation><nlm:aff id="aff10"><institution>Children's University Hospital, Limited Liability Company (Limited by Shares)</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Green, Andrew" sort="Green, Andrew" uniqKey="Green A" first="Andrew" last="Green">Andrew Green</name><affiliation><nlm:aff id="aff11"><institution>Our Lady's Hospital, Crumlin and The Children's University Hospital</institution>, Dublin,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Van Kogelenberg, Margriet" sort="Van Kogelenberg, Margriet" uniqKey="Van Kogelenberg M" first="Margriet" last="Van Kogelenberg">Margriet Van Kogelenberg</name><affiliation><nlm:aff id="aff12"><institution>Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation><nlm:aff id="aff13"><institution>Center for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff14"><institution>Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C J" last="Hamel">Ben C J. Hamel</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation><nlm:aff id="aff1"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Duplications in Xq28 involving <italic>MECP2</italic> have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including <italic>MECP2</italic> has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including <italic>MECP2</italic> for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including <italic>MECP2</italic>, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by <italic>MECP2</italic> duplications. In addition, we found three additional <italic>MECP2</italic> duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a <italic>MECP2</italic> duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for <italic>MECP2</italic> in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.</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">Eur J Hum Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">18985075</article-id><article-id pub-id-type="pmc">2986218</article-id><article-id pub-id-type="pii">ejhg2008208</article-id><article-id pub-id-type="doi">10.1038/ejhg.2008.208</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Structural variation in Xq28: <italic>MECP2</italic> duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy</article-title><alt-title alt-title-type="running"><italic>MECP2</italic> duplications in males with encephalopathy</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lugtenberg</surname><given-names>Dorien</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kleefstra</surname><given-names>Tjitske</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><contrib contrib-type="author"><name><surname>Oudakker</surname><given-names>Astrid R</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Nillesen</surname><given-names>Willy M</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Yntema</surname><given-names>Helger G</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tzschach</surname><given-names>Andreas</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Raynaud</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Rating</surname><given-names>Dietz</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Journel</surname><given-names>Hubert</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Chelly</surname><given-names>Jamel</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Goizet</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Lacombe</surname><given-names>Didier</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Pedespan</surname><given-names>Jean-Michel</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Echenne</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Tariverdian</surname><given-names>Gholamali</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>O'Rourke</surname><given-names>Declan</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>King</surname><given-names>Mary D</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Green</surname><given-names>Andrew</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>van Kogelenberg</surname><given-names>Margriet</given-names></name><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Van Esch</surname><given-names>Hilde</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><xref ref-type="aff" rid="aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Hamel</surname><given-names>Ben C J</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>van Bokhoven</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>de Brouwer</surname><given-names>Arjan P M</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><aff id="aff1"><label>1</label><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, Nijmegen,<country>The Netherlands</country></aff><aff id="aff2"><label>2</label><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin-Dahlem,<country>Germany</country></aff><aff id="aff3"><label>3</label><institution>Service de Génétique, CHRU de Tours</institution>, Tours,<country>France</country></aff><aff id="aff4"><label>4</label><institution>Department of Paediatric Neurology, University Children's Hospital</institution>, Heidelberg,<country>Germany</country></aff><aff id="aff5"><label>5</label><institution>CH de Vannes, Génétique Médicale</institution>, Vannes,<country>France</country></aff><aff id="aff6"><label>6</label><institution>Institut Cochin (IC), Département de Génétique et Pathologie Moléculaire GDPM, Equipe de Génétique et Physiopathologie du Retard Mental GPRM</institution>, Paris,<country>France</country></aff><aff id="aff7"><label>7</label><institution>Service de Génétique Médicale, Hôpital Pellegrin-Enfants</institution>, CHU de Bordeaux,<country>France</country></aff><aff id="aff8"><label>8</label><institution>Service de Neuropédiatrie Hôpital Saint-Eloi</institution>, CHU de Montpellier,<country>France</country></aff><aff id="aff9"><label>9</label><institution>Institute for Human Genetics, University Heidelberg</institution>, Heidelberg,<country>Germany</country></aff><aff id="aff10"><label>10</label><institution>Children's University Hospital, Limited Liability Company (Limited by Shares)</institution>, Dublin,<country>Ireland</country></aff><aff id="aff11"><label>11</label><institution>Our Lady's Hospital, Crumlin and The Children's University Hospital</institution>, Dublin,<country>Ireland</country></aff><aff id="aff12"><label>12</label><institution>Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University</institution>, Dunedin,<country>New Zealand</country></aff><aff id="aff13"><label>13</label><institution>Center for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></aff><aff id="aff14"><label>14</label><institution>Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Department of Human Genetics, Radboud University Nijmegen Medical Centre</institution>, PO Box 9101, Nijmegen 6500 HB, <country>The Netherlands</country>. Tel: +31 24 361 3946; Fax:+31 24 366 8753; E-mail: <email>T.Kleefstra@antrg.umcn.nl</email></corresp></author-notes><pub-date pub-type="ppub"><month>04</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>05</day><month>11</month><year>2008</year></pub-date><volume>17</volume><issue>4</issue><fpage>444</fpage><lpage>453</lpage><history><date date-type="received"><day>02</day><month>05</month><year>2008</year></date><date date-type="rev-recd"><day>25</day><month>07</month><year>2008</year></date><date date-type="accepted"><day>12</day><month>09</month><year>2008</year></date></history><permissions><copyright-statement>Copyright © 2009 Macmillan Publishers Limited</copyright-statement><copyright-year>2009</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Duplications in Xq28 involving <italic>MECP2</italic> have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including <italic>MECP2</italic> has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including <italic>MECP2</italic> for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including <italic>MECP2</italic>, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by <italic>MECP2</italic> duplications. In addition, we found three additional <italic>MECP2</italic> duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a <italic>MECP2</italic> duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for <italic>MECP2</italic> in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.</p></abstract><kwd-group><kwd><italic>MECP2</italic></kwd><kwd>Xq28</kwd><kwd>XLMR</kwd><kwd>encephalopathy</kwd><kwd>duplications</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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