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 : 004215Hybridisation-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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique, Homme, Automatisation.
English descriptors
- KwdEn :
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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<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>
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<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Practice for Gynaecology and Medical Genetics</s1>
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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>
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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>
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<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>
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<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>
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<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>
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<term>Réaction chaîne polymérase</term>
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<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>
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<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>
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<fA11 i1="01" i2="1"><s1>JENSEN (Lars R.)</s1>
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<fA11 i1="02" i2="1"><s1>WEI CHEN</s1>
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<fA11 i1="03" i2="1"><s1>MOSER (Bettina)</s1>
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<fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1>
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<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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<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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