AustralieFrV1, PascalFrancis, Curation, bibRecord, 004214

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

Identifieur interne : 004214 ( PascalFrancis/Curation ); précédent : 004213; suivant : 004215

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.

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Le document en format XML

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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Tubingen</s1>
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<s3>DEU</s3>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
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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="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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</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"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">11-0252313</idno>
<date when="2011">2011</date>
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<idno type="RBID">Pascal:11-0252313</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001D28</idno>
<idno type="stanalyst">FRANCIS 11-0252313 INIST</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002209</idno>
<idno type="wicri:Area/PascalFrancis/Curation">004214</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1</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"><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>
</affiliation>
</author>
<author><name sortKey="Wei Chen" sort="Wei Chen" uniqKey="Wei Chen" last="Wei Chen">WEI CHEN</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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</affiliation>
</author>
<author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Tubingen</s1>
<s2>Tubingen</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
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<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</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"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
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<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<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>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
</affiliation>
</author>
<author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
</affiliation>
</author>
<author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>The GOLD Service, Hunter Genetics</s1>
<s2>Waratah, New South Wales</s2>
<s3>AUS</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Australie</country>
</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"><inist:fA14 i1="09"><s1>Practice for Gynaecology and Medical Genetics</s1>
<s2>Nuremberg</s2>
<s3>DEU</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Institute of Human Genetics, University Hospital Homburg/Saarland</s1>
<s2>Homburg/Saar</s2>
<s3>DEU</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Australie</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Paediatrics, University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Australie</country>
</affiliation>
</author>
<author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Tubingen</s1>
<s2>Tubingen</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Tubingen</s1>
<s2>Tubingen</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</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"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</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"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
</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>
</series>
</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1018-4813</s0>
</fA01>
<fA03 i2="1"><s0>Eur. j. hum. genet.</s0>
</fA03>
<fA05><s2>19</s2>
</fA05>
<fA06><s2>6</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>JENSEN (Lars R.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WEI CHEN</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MOSER (Bettina)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>LIPKOWITZ (Bettina)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>SCHROEDER (Christopher)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>MUSANTE (Luciana)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>TZSCHACH (Andreas)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>KALSCHEUER (Vera M.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>MELONI (Ilaria)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>RAYNAUD (Martine)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>VAN ESCH (Hilde)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>CHELLY (Jamel)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>DE BROUWER (Arjan Pm)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>HACKETT (Anna)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>VAN DER HAAR (Sigrun)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>HENN (Wolfram)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>GECZ (Jozef)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>RIESS (Olaf)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>BONIN (Michael)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>REINHARDT (Richard)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>ROPERS (Hans-Hilger)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>KUSS (Andreas W.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Medical Genetics, University of Tubingen</s1>
<s2>Tubingen</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Medical Genetics Unit, Department of Molecular Biology, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Services de Genetique (INSERM)</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Centre for Human Genetics, University Hospital Leuven</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>11 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>The GOLD Service, Hunter Genetics</s1>
<s2>Waratah, New South Wales</s2>
<s3>AUS</s3>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Practice for Gynaecology and Medical Genetics</s1>
<s2>Nuremberg</s2>
<s3>DEU</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Institute of Human Genetics, University Hospital Homburg/Saarland</s1>
<s2>Homburg/Saar</s2>
<s3>DEU</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Department of Paediatrics, University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA20><s1>717-720</s1>
</fA20>
<fA21><s1>2011</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>27370</s2>
<s5>354000192109890160</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>16 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>11-0252313</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>European journal of human genetics</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B23A</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002A04</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002A07</s0>
</fC02>
<fC02 i1="04" i2="X"><s0>002B18C12</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Arriération mentale</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Mental retardation</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Retraso mental</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Déficience intellectuelle</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Intellectual deficiency</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Deficiencia intelectual</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Chromosome X anormal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Abnormal X chromosome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Cromosoma X anormal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Génétique</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Genetics</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Genética</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Gène</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Gene</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Gen</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Malade</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Patient</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Enfermo</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Mutation</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Mutation</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Mutación</s0>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>14</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Chromosome X</s0>
<s5>15</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>X-Chromosome</s0>
<s5>15</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Cromosoma X</s0>
<s5>15</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Caractère lié au sexe</s0>
<s5>16</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Sex linked character</s0>
<s5>16</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Carácter ligado al sexo</s0>
<s5>16</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Automatisation</s0>
<s5>17</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Automation</s0>
<s5>17</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Automatización</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Méthode</s0>
<s5>18</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Method</s0>
<s5>18</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Método</s0>
<s5>18</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Réaction chaîne polymérase</s0>
<s5>19</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Polymerase chain reaction</s0>
<s5>19</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Reacción cadena polimerasa</s0>
<s5>19</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Chromosome anormal</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Abnormal chromosome</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Cromosoma anormal</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Aberration chromosomique</s0>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Chromosomal aberration</s0>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Aberración cromosómica</s0>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Trouble du développement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Developmental disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Trastorno desarrollo</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Biologie moléculaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Molecular biology</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Biología molecular</s0>
<s5>38</s5>
</fC07>
<fN21><s1>171</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</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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