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
Url:
DOI: 10.1038/ejhg.2010.244
PubMed: 21267006
PubMed Central: 3110040
Affiliations:
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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>
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<author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name>
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<author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name>
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<author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
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<author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name>
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<author><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name>
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</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name>
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<author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
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<country xml:lang="fr">Belgique</country>
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<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
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, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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, Waratah, New South Wales,<country>Australia</country>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name>
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, Homburg/Saar,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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<author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name>
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, Tübingen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name>
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, Tübingen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<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>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<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>
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<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>
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<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>
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<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>
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