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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in <italic>Filamin A</italic></title><author><name sortKey="Reinstein, Eyal" sort="Reinstein, Eyal" uniqKey="Reinstein E" first="Eyal" last="Reinstein">Eyal Reinstein</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Frentz, Sophia" sort="Frentz, Sophia" uniqKey="Frentz S" first="Sophia" last="Frentz">Sophia Frentz</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name><affiliation><nlm:aff id="aff3"><institution>Clinical Genetics Section, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff id="aff4"><institution>Children's Neuroscience Centre & Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:aff id="aff5"><institution>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Pariani, Mitchel" sort="Pariani, Mitchel" uniqKey="Pariani M" first="Mitchel" last="Pariani">Mitchel Pariani</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Van Der Steen, Anthony" sort="Van Der Steen, Anthony" uniqKey="Van Der Steen A" first="Anthony" last="Van Der Steen">Anthony Van Der Steen</name><affiliation><nlm:aff id="aff6"><institution>North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick Park Hospital</institution>, Harrow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Pope, Michael" sort="Pope, Michael" uniqKey="Pope M" first="Michael" last="Pope">Michael Pope</name><affiliation><nlm:aff id="aff6"><institution>North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick Park Hospital</institution>, Harrow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Holder Espinasse, Muriel" sort="Holder Espinasse, Muriel" uniqKey="Holder Espinasse M" first="Muriel" last="Holder-Espinasse">Muriel Holder-Espinasse</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Clinique, Hôpital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Scott, Richard" sort="Scott, Richard" uniqKey="Scott R" first="Richard" last="Scott">Richard Scott</name><affiliation><nlm:aff id="aff8"><institution>Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Thompson, Elizabeth M" sort="Thompson, Elizabeth M" uniqKey="Thompson E" first="Elizabeth M" last="Thompson">Elizabeth M. Thompson</name><affiliation><nlm:aff id="aff10"><institution>South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Robertson, Terry" sort="Robertson, Terry" uniqKey="Robertson T" first="Terry" last="Robertson">Terry Robertson</name><affiliation><nlm:aff id="aff11"><institution>Department of Cardiology, Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Coppin, Brian" sort="Coppin, Brian" uniqKey="Coppin B" first="Brian" last="Coppin">Brian Coppin</name><affiliation><nlm:aff id="aff12"><institution>Department of Paediatrics and Child Health, Flinders Medical Centre</institution>, Bedford Park, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Siegel, Robert" sort="Siegel, Robert" uniqKey="Siegel R" first="Robert" last="Siegel">Robert Siegel</name><affiliation><nlm:aff id="aff13"><institution>Cardiology Department, Cedars Sinai Medical Center</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Bret Zurita, Montserrat" sort="Bret Zurita, Montserrat" uniqKey="Bret Zurita M" first="Montserrat" last="Bret Zurita">Montserrat Bret Zurita</name><affiliation><nlm:aff id="aff14"><institution>Pediatric Radiology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Jose I" sort="Rodriguez, Jose I" uniqKey="Rodriguez J" first="Jose I" last="Rodríguez">Jose I. Rodríguez</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Morales, Carmen" sort="Morales, Carmen" uniqKey="Morales C" first="Carmen" last="Morales">Carmen Morales</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Rodrigues, Yuri" sort="Rodrigues, Yuri" uniqKey="Rodrigues Y" first="Yuri" last="Rodrigues">Yuri Rodrigues</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Arcas, Joaquin" sort="Arcas, Joaquin" uniqKey="Arcas J" first="Joaquín" last="Arcas">Joaquín Arcas</name><affiliation><nlm:aff id="aff16"><institution>Pediatric Neurology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Saggar, Anand" sort="Saggar, Anand" uniqKey="Saggar A" first="Anand" last="Saggar">Anand Saggar</name><affiliation><nlm:aff id="aff17"><institution>South West Thames Regional Genetics Service, St George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Horton, Margaret" sort="Horton, Margaret" uniqKey="Horton M" first="Margaret" last="Horton">Margaret Horton</name><affiliation><nlm:aff id="aff18"><institution>Medical Genetics, Children's Hospital of Philadelphia</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name><affiliation><nlm:aff id="aff18"><institution>Medical Genetics, Children's Hospital of Philadelphia</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M" last="Graham">John M. Graham</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L" last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P" last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23032111</idno><idno type="pmc">3641385</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641385</idno><idno type="RBID">PMC:3641385</idno><idno type="doi">10.1038/ejhg.2012.209</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000047</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000047</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in <italic>Filamin A</italic></title><author><name sortKey="Reinstein, Eyal" sort="Reinstein, Eyal" uniqKey="Reinstein E" first="Eyal" last="Reinstein">Eyal Reinstein</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Frentz, Sophia" sort="Frentz, Sophia" uniqKey="Frentz S" first="Sophia" last="Frentz">Sophia Frentz</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></nlm:aff></affiliation></author><author><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name><affiliation><nlm:aff id="aff3"><institution>Clinical Genetics Section, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff id="aff4"><institution>Children's Neuroscience Centre & Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:aff id="aff5"><institution>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Pariani, Mitchel" sort="Pariani, Mitchel" uniqKey="Pariani M" first="Mitchel" last="Pariani">Mitchel Pariani</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Van Der Steen, Anthony" sort="Van Der Steen, Anthony" uniqKey="Van Der Steen A" first="Anthony" last="Van Der Steen">Anthony Van Der Steen</name><affiliation><nlm:aff id="aff6"><institution>North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick Park Hospital</institution>, Harrow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Pope, Michael" sort="Pope, Michael" uniqKey="Pope M" first="Michael" last="Pope">Michael Pope</name><affiliation><nlm:aff id="aff6"><institution>North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick Park Hospital</institution>, Harrow,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Holder Espinasse, Muriel" sort="Holder Espinasse, Muriel" uniqKey="Holder Espinasse M" first="Muriel" last="Holder-Espinasse">Muriel Holder-Espinasse</name><affiliation><nlm:aff id="aff7"><institution>Service de Génétique Clinique, Hôpital Jeanne de Flandre</institution>, Lille,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Scott, Richard" sort="Scott, Richard" uniqKey="Scott R" first="Richard" last="Scott">Richard Scott</name><affiliation><nlm:aff id="aff8"><institution>Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical and Molecular Genetics Unit, Institute of Child Health</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Thompson, Elizabeth M" sort="Thompson, Elizabeth M" uniqKey="Thompson E" first="Elizabeth M" last="Thompson">Elizabeth M. Thompson</name><affiliation><nlm:aff id="aff10"><institution>South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Robertson, Terry" sort="Robertson, Terry" uniqKey="Robertson T" first="Terry" last="Robertson">Terry Robertson</name><affiliation><nlm:aff id="aff11"><institution>Department of Cardiology, Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Coppin, Brian" sort="Coppin, Brian" uniqKey="Coppin B" first="Brian" last="Coppin">Brian Coppin</name><affiliation><nlm:aff id="aff12"><institution>Department of Paediatrics and Child Health, Flinders Medical Centre</institution>, Bedford Park, South Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Siegel, Robert" sort="Siegel, Robert" uniqKey="Siegel R" first="Robert" last="Siegel">Robert Siegel</name><affiliation><nlm:aff id="aff13"><institution>Cardiology Department, Cedars Sinai Medical Center</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Bret Zurita, Montserrat" sort="Bret Zurita, Montserrat" uniqKey="Bret Zurita M" first="Montserrat" last="Bret Zurita">Montserrat Bret Zurita</name><affiliation><nlm:aff id="aff14"><institution>Pediatric Radiology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Jose I" sort="Rodriguez, Jose I" uniqKey="Rodriguez J" first="Jose I" last="Rodríguez">Jose I. Rodríguez</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Morales, Carmen" sort="Morales, Carmen" uniqKey="Morales C" first="Carmen" last="Morales">Carmen Morales</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Rodrigues, Yuri" sort="Rodrigues, Yuri" uniqKey="Rodrigues Y" first="Yuri" last="Rodrigues">Yuri Rodrigues</name><affiliation><nlm:aff id="aff15"><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Arcas, Joaquin" sort="Arcas, Joaquin" uniqKey="Arcas J" first="Joaquín" last="Arcas">Joaquín Arcas</name><affiliation><nlm:aff id="aff16"><institution>Pediatric Neurology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Saggar, Anand" sort="Saggar, Anand" uniqKey="Saggar A" first="Anand" last="Saggar">Anand Saggar</name><affiliation><nlm:aff id="aff17"><institution>South West Thames Regional Genetics Service, St George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Horton, Margaret" sort="Horton, Margaret" uniqKey="Horton M" first="Margaret" last="Horton">Margaret Horton</name><affiliation><nlm:aff id="aff18"><institution>Medical Genetics, Children's Hospital of Philadelphia</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name><affiliation><nlm:aff id="aff18"><institution>Medical Genetics, Children's Hospital of Philadelphia</institution>, Philadelphia, PA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Graham, John M" sort="Graham, John M" uniqKey="Graham J" first="John M" last="Graham">John M. Graham</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L" last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff1"><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P" last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff2"><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</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>Mutations conferring loss of function at the <italic>FLNA</italic> (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in <italic>FLNA</italic> that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in <italic>FLNA</italic> should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.</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">23032111</article-id><article-id pub-id-type="pmc">3641385</article-id><article-id pub-id-type="pii">ejhg2012209</article-id><article-id pub-id-type="doi">10.1038/ejhg.2012.209</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in <italic>Filamin A</italic></article-title><alt-title alt-title-type="running">Connective tissue anomalies in patients with <italic>FLNA</italic> mutations</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Reinstein</surname><given-names>Eyal</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>Frentz</surname><given-names>Sophia</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Morgan</surname><given-names>Tim</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>García-Miñaúr</surname><given-names>Sixto</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Leventer</surname><given-names>Richard J</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>McGillivray</surname><given-names>George</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Pariani</surname><given-names>Mitchel</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>van der Steen</surname><given-names>Anthony</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Pope</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Holder-Espinasse</surname><given-names>Muriel</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="aff8">8</xref><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Thompson</surname><given-names>Elizabeth M</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Robertson</surname><given-names>Terry</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Coppin</surname><given-names>Brian</given-names></name><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Siegel</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Bret Zurita</surname><given-names>Montserrat</given-names></name><xref ref-type="aff" rid="aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Rodríguez</surname><given-names>Jose I</given-names></name><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Morales</surname><given-names>Carmen</given-names></name><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Rodrigues</surname><given-names>Yuri</given-names></name><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Arcas</surname><given-names>Joaquín</given-names></name><xref ref-type="aff" rid="aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Saggar</surname><given-names>Anand</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Horton</surname><given-names>Margaret</given-names></name><xref ref-type="aff" rid="aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Zackai</surname><given-names>Elaine</given-names></name><xref ref-type="aff" rid="aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Graham</surname><given-names>John M</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Rimoin</surname><given-names>David L</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="author-notes" rid="note1"><sup>✠</sup></xref></contrib><contrib contrib-type="author"><name><surname>Robertson</surname><given-names>Stephen P</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><aff id="aff1"><label>1</label><institution>Cedars Sinai Medical Center, Medical Genetics Institute</institution>, Los Angeles, CA,<country>USA</country></aff><aff id="aff2"><label>2</label><institution>Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago</institution>, Dunedin,<country>New Zealand</country></aff><aff id="aff3"><label>3</label><institution>Clinical Genetics Section, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital</institution>, Madrid,<country>Spain</country></aff><aff id="aff4"><label>4</label><institution>Children's Neuroscience Centre & Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></aff><aff id="aff5"><label>5</label><institution>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital</institution>, Melbourne, Victoria,<country>Australia</country></aff><aff id="aff6"><label>6</label><institution>North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick Park Hospital</institution>, Harrow,<country>UK</country></aff><aff id="aff7"><label>7</label><institution>Service de Génétique Clinique, Hôpital Jeanne de Flandre</institution>, Lille,<country>France</country></aff><aff id="aff8"><label>8</label><institution>Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital</institution>, London,<country>UK</country></aff><aff id="aff9"><label>9</label><institution>Clinical and Molecular Genetics Unit, Institute of Child Health</institution>, London,<country>UK</country></aff><aff id="aff10"><label>10</label><institution>South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></aff><aff id="aff11"><label>11</label><institution>Department of Cardiology, Women's and Children's Hospital</institution>, North Adelaide, South Australia,<country>Australia</country></aff><aff id="aff12"><label>12</label><institution>Department of Paediatrics and Child Health, Flinders Medical Centre</institution>, Bedford Park, South Australia,<country>Australia</country></aff><aff id="aff13"><label>13</label><institution>Cardiology Department, Cedars Sinai Medical Center</institution>, Los Angeles, CA,<country>USA</country></aff><aff id="aff14"><label>14</label><institution>Pediatric Radiology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></aff><aff id="aff15"><label>15</label><institution>Pathology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></aff><aff id="aff16"><label>16</label><institution>Pediatric Neurology Department, La Paz University Hospital</institution>, Madrid,<country>Spain</country></aff><aff id="aff17"><label>17</label><institution>South West Thames Regional Genetics Service, St George's Hospital NHS Trust</institution>, London,<country>UK</country></aff><aff id="aff18"><label>18</label><institution>Medical Genetics, Children's Hospital of Philadelphia</institution>, Philadelphia, PA,<country>USA</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Cedars-Sinai Medical Center, Medical Genetics Institute</institution>, 8700 Beverly Boulevard, Los Angeles, CA 90048, <country>USA</country>. Tel: +1 310 423 9904; Fax: +1 310 423 2080; E-mail: <email>reinstein.eyal@gmail.com</email></corresp><fn fn-type="present-address" id="note1"><label>✠</label><p>Deceased.</p></fn></author-notes><pub-date pub-type="ppub"><month>05</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>03</day><month>10</month><year>2012</year></pub-date><volume>21</volume><issue>5</issue><fpage>494</fpage><lpage>502</lpage><history><date date-type="received"><day>05</day><month>04</month><year>2012</year></date><date date-type="rev-recd"><day>03</day><month>07</month><year>2012</year></date><date date-type="accepted"><day>06</day><month>07</month><year>2012</year></date></history><permissions><copyright-statement>Copyright © 2013 Macmillan Publishers Limited</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Mutations conferring loss of function at the <italic>FLNA</italic> (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in <italic>FLNA</italic> that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in <italic>FLNA</italic> should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.</p></abstract><kwd-group><kwd>filamin A</kwd><kwd>periventricular heterotopia</kwd><kwd>Ehlers-Danlos syndrome</kwd><kwd>screening</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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