Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Identifieur interne : 002281 ( Pmc/Checkpoint ); précédent : 002280; suivant : 002282Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Auteurs : Lars R. Jensen [Allemagne] ; Wei Chen [Allemagne] ; Bettina Moser [Allemagne] ; Bettina Lipkowitz [Allemagne] ; Christopher Schroeder [Allemagne] ; Luciana Musante [Allemagne] ; Andreas Tzschach [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Ilaria Meloni [Italie] ; Martine Raynaud [France] ; Hilde Van Esch [Belgique] ; Jamel Chelly [France] ; Arjan P M. De Brouwer [Pays-Bas] ; Anna Hackett [Australie] ; Sigrun Van Der Haar [Allemagne] ; Wolfram Henn [Allemagne] ; Jozef Gecz [Australie] ; Olaf Riess [Allemagne] ; Michael Bonin [Allemagne] ; Richard Reinhardt [Allemagne] ; Hans-Hilger Ropers [Allemagne] ; Andreas W. Kuss [Allemagne]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2011.
Abstract
X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting
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DOI: 10.1038/ejhg.2010.244
PubMed: 21267006
PubMed Central: 3110040
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></title><author><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R" last="Jensen">Lars R. Jensen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Unit, Department of Molecular Biology, University of Siena</institution>, Siena,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Services de Génétique (INSERM)</institution>, Tours,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff5"><institution>Centre for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff7"><institution>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>The GOLD Service, Hunter Genetics</institution>, Waratah, New South Wales,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Haar, Sigrun" sort="Van Der Haar, Sigrun" uniqKey="Van Der Haar S" first="Sigrun" last="Van Der Haar">Sigrun Van Der Haar</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Practice for Gynaecology and Medical Genetics</institution>, Nuremberg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Institute of Human Genetics, University Hospital Homburg/Saarland</institution>, Homburg/Saar,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21267006</idno><idno type="pmc">3110040</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110040</idno><idno type="RBID">PMC:3110040</idno><idno type="doi">10.1038/ejhg.2010.244</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000002</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000002</idno><idno type="wicri:Area/Pmc/Curation">000002</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000002</idno><idno type="wicri:Area/Pmc/Checkpoint">002281</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002281</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></title><author><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R" last="Jensen">Lars R. Jensen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Unit, Department of Molecular Biology, University of Siena</institution>, Siena,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Services de Génétique (INSERM)</institution>, Tours,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff5"><institution>Centre for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff7"><institution>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>The GOLD Service, Hunter Genetics</institution>, Waratah, New South Wales,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Haar, Sigrun" sort="Van Der Haar, Sigrun" uniqKey="Van Der Haar S" first="Sigrun" last="Van Der Haar">Sigrun Van Der Haar</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Practice for Gynaecology and Medical Genetics</institution>, Nuremberg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Institute of Human Genetics, University Hospital Homburg/Saarland</institution>, Homburg/Saar,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting <italic>ATRX</italic> (p.1761M>T), <italic>PQBP1</italic> (p.155R>X) and <italic>SLC6A8</italic> (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.</p></div></front></TEI><pmc article-type="brief-report"><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">21267006</article-id><article-id pub-id-type="pmc">3110040</article-id><article-id pub-id-type="pii">ejhg2010244</article-id><article-id pub-id-type="doi">10.1038/ejhg.2010.244</article-id><article-categories><subj-group subj-group-type="heading"><subject>Short Report</subject></subj-group></article-categories><title-group><article-title>Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></article-title><alt-title alt-title-type="running">Novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Lars R</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="author-notes" rid="note1"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Wei</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="author-notes" rid="note1"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Moser</surname><given-names>Bettina</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Lipkowitz</surname><given-names>Bettina</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Schroeder</surname><given-names>Christopher</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Musante</surname><given-names>Luciana</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="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kalscheuer</surname><given-names>Vera M</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Meloni</surname><given-names>Ilaria</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Raynaud</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>van Esch</surname><given-names>Hilde</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>de Brouwer</surname><given-names>Arjan P M</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hackett</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>van der Haar</surname><given-names>Sigrun</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Henn</surname><given-names>Wolfram</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><xref ref-type="aff" rid="aff11">11</xref><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Riess</surname><given-names>Olaf</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Bonin</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Reinhardt</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ropers</surname><given-names>Hans-Hilger</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kuss</surname><given-names>Andreas W</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></aff><aff id="aff2"><label>2</label><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></aff><aff id="aff3"><label>3</label><institution>Medical Genetics Unit, Department of Molecular Biology, University of Siena</institution>, Siena,<country>Italy</country></aff><aff id="aff4"><label>4</label><institution>Services de Génétique (INSERM)</institution>, Tours,<country>France</country></aff><aff id="aff5"><label>5</label><institution>Centre for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></aff><aff id="aff6"><label>6</label><institution>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</institution>, Paris,<country>France</country></aff><aff id="aff7"><label>7</label><institution>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</institution>, Nijmegen,<country>The Netherlands</country></aff><aff id="aff8"><label>8</label><institution>The GOLD Service, Hunter Genetics</institution>, Waratah, New South Wales,<country>Australia</country></aff><aff id="aff9"><label>9</label><institution>Practice for Gynaecology and Medical Genetics</institution>, Nuremberg,<country>Germany</country></aff><aff id="aff10"><label>10</label><institution>Institute of Human Genetics, University Hospital Homburg/Saarland</institution>, Homburg/Saar,<country>Germany</country></aff><aff id="aff11"><label>11</label><institution>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</institution>, Adelaide,<country>Australia</country></aff><aff id="aff12"><label>12</label><institution>Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Institute for Human Genetics, Interfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University of Greifswald</institution>, Fleischmannstr. 42-44, 17475 Greifswald, <country>Germany</country>. Tel: +49 (0)3834 86 5371; Fax: +49 (0)3834 86 5393; E-mail: <email>andreas.kuss@uni-greifswald.de</email></corresp><fn fn-type="present-address" id="note1"><label>13</label><p>These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>06</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>26</day><month>01</month><year>2011</year></pub-date><volume>19</volume><issue>6</issue><fpage>717</fpage><lpage>720</lpage><history><date date-type="received"><day>29</day><month>04</month><year>2010</year></date><date date-type="rev-recd"><day>01</day><month>12</month><year>2010</year></date><date date-type="accepted"><day>02</day><month>12</month><year>2010</year></date></history><permissions><copyright-statement>Copyright © 2011 Macmillan Publishers Limited</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting <italic>ATRX</italic> (p.1761M>T), <italic>PQBP1</italic> (p.155R>X) and <italic>SLC6A8</italic> (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.</p></abstract><kwd-group><kwd>X-linked intellectual disability</kwd><kwd>X-linked mental retardation</kwd><kwd>array-based resequencing</kwd><kwd>mutation analysis</kwd><kwd>automated PCR</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Italie</li><li>Pays-Bas</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R" last="Jensen">Lars R. Jensen</name></noRegion><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><name sortKey="Van Der Haar, Sigrun" sort="Van Der Haar, Sigrun" uniqKey="Van Der Haar S" first="Sigrun" last="Van Der Haar">Sigrun Van Der Haar</name></country><country name="Italie"><noRegion><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name></noRegion></country><country name="France"><noRegion><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></noRegion><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></country><country name="Belgique"><noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></noRegion></country><country name="Pays-Bas"><noRegion><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></noRegion></country><country name="Australie"><noRegion><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name></noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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