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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of
<italic>FOXG1</italic>
-regulatory elements</title>
<author><name sortKey="Allou, Lila" sort="Allou, Lila" uniqKey="Allou L" first="Lila" last="Allou">Lila Allou</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Service de Médecine Infantile 1, Hôpital d'Enfants, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Unité de Génétique Clinique, Médecine Néonatale, Maternité Régionale Universitaire, Rue du Dr Heydenreich</institution>
, Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amsallem, Daniel" sort="Amsallem, Daniel" uniqKey="Amsallem D" first="Daniel" last="Amsallem">Daniel Amsallem</name>
<affiliation><nlm:aff id="aff4"><institution>Service de Neuropédiatrie, Hôpital St Jacques, Place St Jacques</institution>
, Besançon,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation><nlm:aff id="aff5"><institution>Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac</institution>
, Toulouse,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<affiliation><nlm:aff id="aff6"><institution>Service de Cytogénétique Constitutionnelle, Hospices civils de Lyon, Groupement Hospitalier Est</institution>
, BRON Cedex,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff7"><institution>INSERM U102; CNRS UMR5292, University Lyon 1, Lyon Neuroscience Research Center, TIGER team</institution>
, Lyon,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
<affiliation><nlm:aff id="aff8"><institution>Institut de Génétique Humaine</institution>
, Charleroi,<country>Belgique</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rivier, Francois" sort="Rivier, Francois" uniqKey="Rivier F" first="François" last="Rivier">François Rivier</name>
<affiliation><nlm:aff id="aff9"><institution>CHRU Montpellier, Neuropédiatrie CR Maladies Neuromusculaires</institution>
, Montpellier,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amor, David" sort="Amor, David" uniqKey="Amor D" first="David" last="Amor">David Amor</name>
<affiliation><nlm:aff id="aff10"><institution>Murdoch Children's Research Institute, Royal Children's Hospital</institution>
, Melbourne,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Thompson, Elizabeth" sort="Thompson, Elizabeth" uniqKey="Thompson E" first="Elizabeth" last="Thompson">Elizabeth Thompson</name>
<affiliation><nlm:aff id="aff11"><institution>SA Clinical Genetics Service, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide, SA,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nicholl, Julian" sort="Nicholl, Julian" uniqKey="Nicholl J" first="Julian" last="Nicholl">Julian Nicholl</name>
<affiliation><nlm:aff id="aff12"><institution>Department of Cytogenetics, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide,<country>South Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harbord, Michael" sort="Harbord, Michael" uniqKey="Harbord M" first="Michael" last="Harbord">Michael Harbord</name>
<affiliation><nlm:aff id="aff13"><institution>Department of Paediatric, Flinders Medical Centre</institution>
, Bedford Park,<country>South Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nemos, Christophe" sort="Nemos, Christophe" uniqKey="Nemos C" first="Christophe" last="Nemos">Christophe Nemos</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Saunier, Aline" sort="Saunier, Aline" uniqKey="Saunier A" first="Aline" last="Saunier">Aline Saunier</name>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Moustaine, Aissa" sort="Moustaine, Aissa" uniqKey="Moustaine A" first="Aissa" last="Moustaïne">Aissa Moustaïne</name>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name>
<affiliation><nlm:aff id="aff5"><institution>Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac</institution>
, Toulouse,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22739344</idno>
<idno type="pmc">3499785</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499785</idno>
<idno type="RBID">PMC:3499785</idno>
<idno type="doi">10.1038/ejhg.2012.127</idno>
<date when="2012">2012</date>
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<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000046</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of
<italic>FOXG1</italic>
-regulatory elements</title>
<author><name sortKey="Allou, Lila" sort="Allou, Lila" uniqKey="Allou L" first="Lila" last="Allou">Lila Allou</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Service de Médecine Infantile 1, Hôpital d'Enfants, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff3"><institution>Unité de Génétique Clinique, Médecine Néonatale, Maternité Régionale Universitaire, Rue du Dr Heydenreich</institution>
, Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amsallem, Daniel" sort="Amsallem, Daniel" uniqKey="Amsallem D" first="Daniel" last="Amsallem">Daniel Amsallem</name>
<affiliation><nlm:aff id="aff4"><institution>Service de Neuropédiatrie, Hôpital St Jacques, Place St Jacques</institution>
, Besançon,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name>
<affiliation><nlm:aff id="aff5"><institution>Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac</institution>
, Toulouse,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<affiliation><nlm:aff id="aff6"><institution>Service de Cytogénétique Constitutionnelle, Hospices civils de Lyon, Groupement Hospitalier Est</institution>
, BRON Cedex,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff7"><institution>INSERM U102; CNRS UMR5292, University Lyon 1, Lyon Neuroscience Research Center, TIGER team</institution>
, Lyon,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
<affiliation><nlm:aff id="aff8"><institution>Institut de Génétique Humaine</institution>
, Charleroi,<country>Belgique</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Rivier, Francois" sort="Rivier, Francois" uniqKey="Rivier F" first="François" last="Rivier">François Rivier</name>
<affiliation><nlm:aff id="aff9"><institution>CHRU Montpellier, Neuropédiatrie CR Maladies Neuromusculaires</institution>
, Montpellier,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Amor, David" sort="Amor, David" uniqKey="Amor D" first="David" last="Amor">David Amor</name>
<affiliation><nlm:aff id="aff10"><institution>Murdoch Children's Research Institute, Royal Children's Hospital</institution>
, Melbourne,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Thompson, Elizabeth" sort="Thompson, Elizabeth" uniqKey="Thompson E" first="Elizabeth" last="Thompson">Elizabeth Thompson</name>
<affiliation><nlm:aff id="aff11"><institution>SA Clinical Genetics Service, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide, SA,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nicholl, Julian" sort="Nicholl, Julian" uniqKey="Nicholl J" first="Julian" last="Nicholl">Julian Nicholl</name>
<affiliation><nlm:aff id="aff12"><institution>Department of Cytogenetics, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide,<country>South Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harbord, Michael" sort="Harbord, Michael" uniqKey="Harbord M" first="Michael" last="Harbord">Michael Harbord</name>
<affiliation><nlm:aff id="aff13"><institution>Department of Paediatric, Flinders Medical Centre</institution>
, Bedford Park,<country>South Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nemos, Christophe" sort="Nemos, Christophe" uniqKey="Nemos C" first="Christophe" last="Nemos">Christophe Nemos</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Saunier, Aline" sort="Saunier, Aline" uniqKey="Saunier A" first="Aline" last="Saunier">Aline Saunier</name>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Moustaine, Aissa" sort="Moustaine, Aissa" uniqKey="Moustaine A" first="Aissa" last="Moustaïne">Aissa Moustaïne</name>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name>
<affiliation><nlm:aff id="aff5"><institution>Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac</institution>
, Toulouse,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Philippe, Christophe" sort="Philippe, Christophe" uniqKey="Philippe C" first="Christophe" last="Philippe">Christophe Philippe</name>
<affiliation><nlm:aff id="aff1"><institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff14"><institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</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="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The Forkhead box G1 (<italic>FOXG1</italic>) gene has been implicated in severe Rett-like
phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional
repressor critical for forebrain development. Recently, the core <italic>FOXG1</italic> syndrome
was defined as postnatal microcephaly, severe mental retardation, absent language,
dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients
with a severe Rett-like neurodevelopment disorder associated with <italic>de novo</italic>
<italic>FOXG1</italic> point mutations (two cases) or 14q12 deletions (five cases). We expand the
mutational spectrum in patients with <italic>FOXG1</italic>-related encephalopathies and precise
the core <italic>FOXG1</italic> syndrome phenotype. Dysgenesis of the corpus callosum and
dyskinesia are not always present in <italic>FOXG1</italic>-mutated patients. We believe that the
<italic>FOXG1</italic> gene should be considered in severely mentally retarded patients (no
speech-language) with severe acquired microcephaly (−4 to−6 SD) and few
clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions
that do not include the <italic>FOXG1</italic> gene are associated with phenotypes very
reminiscent to that of <italic>FOXG1</italic>-mutation-positive patients. We physically mapped a
putative long-range <italic>FOXG1</italic>-regulatory element in a 0.43 Mb DNA segment
encompassing the <italic>PRKD1</italic>
 locus. In fibroblast cells, a <italic>cis</italic>-acting
regulatory sequence located more than 0.6 Mb away from <italic>FOXG1</italic> acts as a
silencer at the transcriptional level. These data are important for clinicians and for
molecular biologists involved in the management of patients with severe encephalopathies
compatible with a <italic>FOXG1</italic>
-related phenotype.</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-id journal-id-type="iso-abbrev">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">22739344</article-id>
<article-id pub-id-type="pmc">3499785</article-id>
<article-id pub-id-type="pii">ejhg2012127</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2012.127</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of
<italic>FOXG1</italic>
-regulatory elements</article-title>
<alt-title alt-title-type="running">14q12 and Rett-like phenotypes</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Allou</surname>
<given-names>Lila</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="author-notes" rid="note1"><sup>15</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lambert</surname>
<given-names>Laetitia</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="aff" rid="aff3">3</xref>
<xref ref-type="author-notes" rid="note1"><sup>15</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Amsallem</surname>
<given-names>Daniel</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bieth</surname>
<given-names>Eric</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Edery</surname>
<given-names>Patrick</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Destrée</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rivier</surname>
<given-names>François</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Amor</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Thompson</surname>
<given-names>Elizabeth</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nicholl</surname>
<given-names>Julian</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Harbord</surname>
<given-names>Michael</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nemos</surname>
<given-names>Christophe</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saunier</surname>
<given-names>Aline</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Moustaïne</surname>
<given-names>Aissa</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vigouroux</surname>
<given-names>Adeline</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jonveaux</surname>
<given-names>Philippe</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Philippe</surname>
<given-names>Christophe</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff14">14</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>EA 4368, Déficiences mentales et anomalies de structure du génome, Faculté de Médecine, Université de Lorraine</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Service de Médecine Infantile 1, Hôpital d'Enfants, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Unité de Génétique Clinique, Médecine Néonatale, Maternité Régionale Universitaire, Rue du Dr Heydenreich</institution>
, Nancy,<country>France</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Service de Neuropédiatrie, Hôpital St Jacques, Place St Jacques</institution>
, Besançon,<country>France</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac</institution>
, Toulouse,<country>France</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Service de Cytogénétique Constitutionnelle, Hospices civils de Lyon, Groupement Hospitalier Est</institution>
, BRON Cedex,<country>France</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>INSERM U102; CNRS UMR5292, University Lyon 1, Lyon Neuroscience Research Center, TIGER team</institution>
, Lyon,<country>France</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Institut de Génétique Humaine</institution>
, Charleroi,<country>Belgique</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>CHRU Montpellier, Neuropédiatrie CR Maladies Neuromusculaires</institution>
, Montpellier,<country>France</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Murdoch Children's Research Institute, Royal Children's Hospital</institution>
, Melbourne,<country>Australia</country>
</aff>
<aff id="aff11"><label>11</label>
<institution>SA Clinical Genetics Service, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide, SA,<country>Australia</country>
</aff>
<aff id="aff12"><label>12</label>
<institution>Department of Cytogenetics, SA Pathology, Women's and Children's Hospital</institution>
, North Adelaide,<country>South Australia</country>
</aff>
<aff id="aff13"><label>13</label>
<institution>Department of Paediatric, Flinders Medical Centre</institution>
, Bedford Park,<country>South Australia</country>
</aff>
<aff id="aff14"><label>14</label>
<institution>Laboratoire de génétique médicale, Centre Hospitalier Régional et Universitaire, Rue du Morvan</institution>
, Vandoeuvre-les-Nancy,<country>France</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>EA 4368 UHP Nancy Universite, Laboratoire de
génétique médicale, Centre Hospitalier Universitaire de Nancy
Brabois, Rue du Morvan</institution>, Vandoeuvre les Nancy
F-54511, <country>France</country>. Tel: +33 3 83 15 76 04; Fax: +33 3 83 15
37 72; E-mail: <email>c.philippe@chu-nancy.fr</email>
</corresp>
<fn fn-type="present-address" id="note1"><label>15</label>
<p>These authors contributed equally to this work.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>12</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>06</month>
<year>2012</year>
</pub-date>
<volume>20</volume>
<issue>12</issue>
<fpage>1216</fpage>
<lpage>1223</lpage>
<history><date date-type="received"><day>31</day>
<month>08</month>
<year>2011</year>
</date>
<date date-type="rev-recd"><day>03</day>
<month>04</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>24</day>
<month>04</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
<abstract><p>The Forkhead box G1 (<italic>FOXG1</italic>) gene has been implicated in severe Rett-like
phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional
repressor critical for forebrain development. Recently, the core <italic>FOXG1</italic> syndrome
was defined as postnatal microcephaly, severe mental retardation, absent language,
dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients
with a severe Rett-like neurodevelopment disorder associated with <italic>de novo</italic>
<italic>FOXG1</italic> point mutations (two cases) or 14q12 deletions (five cases). We expand the
mutational spectrum in patients with <italic>FOXG1</italic>-related encephalopathies and precise
the core <italic>FOXG1</italic> syndrome phenotype. Dysgenesis of the corpus callosum and
dyskinesia are not always present in <italic>FOXG1</italic>-mutated patients. We believe that the
<italic>FOXG1</italic> gene should be considered in severely mentally retarded patients (no
speech-language) with severe acquired microcephaly (−4 to−6 SD) and few
clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions
that do not include the <italic>FOXG1</italic> gene are associated with phenotypes very
reminiscent to that of <italic>FOXG1</italic>-mutation-positive patients. We physically mapped a
putative long-range <italic>FOXG1</italic>-regulatory element in a 0.43 Mb DNA segment
encompassing the <italic>PRKD1</italic>
 locus. In fibroblast cells, a <italic>cis</italic>-acting
regulatory sequence located more than 0.6 Mb away from <italic>FOXG1</italic> acts as a
silencer at the transcriptional level. These data are important for clinicians and for
molecular biologists involved in the management of patients with severe encephalopathies
compatible with a <italic>FOXG1</italic>
-related phenotype.</p>
</abstract>
<kwd-group><kwd>14q12</kwd>
<kwd>CNV</kwd>
<kwd><italic>FOXG1</italic>
</kwd>
<kwd>Rett syndrome</kwd>
<kwd><italic>cis</italic>
-acting regulatory element</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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