AustralieFrV1, Main, Exploration, bibRecord, 006A31

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Identifieur interne : 006A31 ( Main/Exploration ); précédent : 006A30; suivant : 006A32

Hybridisation-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 Pm 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.

RBID : Pascal:11-0252313

Descripteurs français

Pascal (Inist)
- Arriération mentale, Déficience intellectuelle, Chromosome X anormal, Génétique, Gène, Homme, Malade, Mutation, Maladie héréditaire, Chromosome X, Caractère lié au sexe, Automatisation, Méthode, Réaction chaîne polymérase.
Wicri :
- topic : Génétique, Homme, Automatisation.

English descriptors

KwdEn :
- Abnormal X chromosome, Automation, Gene, Genetic disease, Genetics, Human, Intellectual deficiency, Mental retardation, Method, Mutation, Patient, Polymerase chain reaction, Sex linked character, X-Chromosome.

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 ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S > L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110040

Affiliations:

Allemagne, Australie, Belgique, France, Italie, Pays-Bas
Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
Berlin, Nimègue, Paris, Tours

Le document en format XML

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<author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
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<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
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<author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</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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<settlement type="city">Berlin</settlement>
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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>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
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</affiliation>
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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"><inist:fA14 i1="03"><s1>Medical Genetics Unit, Department of Molecular Biology, University of Siena</s1>
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<s3>ITA</s3>
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</inist:fA14>
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<wicri:noRegion>Siena</wicri:noRegion>
</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="3"><inist:fA14 i1="04"><s1>Services de Genetique (INSERM)</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</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"><inist:fA14 i1="05"><s1>Centre for Human Genetics, University Hospital Leuven</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Brouwer, Arjan Pm" sort="De Brouwer, Arjan Pm" uniqKey="De Brouwer A" first="Arjan Pm" last="De Brouwer">Arjan Pm De Brouwer</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</s1>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
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<s3>AUS</s3>
<sZ>14 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Waratah, New South Wales</wicri:noRegion>
</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>
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<sZ>15 aut.</sZ>
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<country>Allemagne</country>
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<wicri:noRegion>Practice for Gynaecology and Medical Genetics</wicri:noRegion>
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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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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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<country>Australie</country>
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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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<author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name>
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</affiliation>
</author>
<author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
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<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="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
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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>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
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</analytic>
<series><title level="j" type="main">European journal of human genetics</title>
<title level="j" type="abbreviated">Eur. j. hum. genet.</title>
<idno type="ISSN">1018-4813</idno>
<imprint><date when="2011">2011</date>
</imprint>
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</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">European journal of human genetics</title>
<title level="j" type="abbreviated">Eur. j. hum. genet.</title>
<idno type="ISSN">1018-4813</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal X chromosome</term>
<term>Automation</term>
<term>Gene</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Intellectual deficiency</term>
<term>Mental retardation</term>
<term>Method</term>
<term>Mutation</term>
<term>Patient</term>
<term>Polymerase chain reaction</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Déficience intellectuelle</term>
<term>Chromosome X anormal</term>
<term>Génétique</term>
<term>Gène</term>
<term>Homme</term>
<term>Malade</term>
<term>Mutation</term>
<term>Maladie héréditaire</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Automatisation</term>
<term>Méthode</term>
<term>Réaction chaîne polymérase</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
<term>Automatisation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S > L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
</country>
<region><li>Berlin</li>
<li>Centre-Val de Loire</li>
<li>Gueldre</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Tours</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R." last="Jensen">Lars R. Jensen</name>
</region>
<name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</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>
<name sortKey="Wei Chen" sort="Wei Chen" uniqKey="Wei Chen" last="Wei Chen">WEI CHEN</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"><region name="Centre-Val de Loire"><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name>
</region>
<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"><region name="Gueldre"><name sortKey="De Brouwer, Arjan Pm" sort="De Brouwer, Arjan Pm" uniqKey="De Brouwer A" first="Arjan Pm" last="De Brouwer">Arjan Pm De Brouwer</name>
</region>
</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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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

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	Serveur d'exploration sur les relations entre la France et l'Australie
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