X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11
Identifieur interne : 009245 ( Main/Exploration ); précédent : 009244; suivant : 009246X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11
Auteurs : Lars Riff Jensen [Allemagne] ; Steffen Lenzner [Allemagne] ; Bettina Moser [Allemagne] ; Kristine Freude [Allemagne] ; Andreas Tzschach [Allemagne] ; CHEN WEI [Allemagne] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Gillian Turner [Australie] ; Claude Moraine [France] ; Ben Hamel [Pays-Bas] ; Hans-Hilger Ropers [Allemagne] ; Andreas Walter Kuss [Allemagne]Source :
- European journal of human genetics [ 1018-4813 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
Abstract
About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expressed candidate genes located in this interval have been screened for mutations in up to 22 mental retardation (MR) families linked to this region. In total, we have identified 57 sequence variants in exons and splice sites of 27 genes. Based on these data, four novel MR genes were identified, but most of the sequence variants observed during this study have not yet been described. The purpose of this article is to present a comprehensive overview of this work and its outcome. It describes all sequence variants detected in 548 exons and their flanking sequences, including disease-causing mutations as well as possibly relevant polymorphic and silent sequence changes. We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX.
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
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L:x:linked:mental</idno><idno type="wicri:Area/Main/Merge">009C19</idno><idno type="wicri:Area/Main/Curation">009245</idno><idno type="wicri:Area/Main/Exploration">009245</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11</title><author><name sortKey="Riff Jensen, Lars" sort="Riff Jensen, Lars" uniqKey="Riff Jensen L" first="Lars" last="Riff Jensen">Lars Riff Jensen</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Chen Wei" sort="Chen Wei" uniqKey="Chen Wei" last="Chen Wei">CHEN WEI</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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>7 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="03"><s1>Departement de Génétique et Pathologie Moléculaire, Institut Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>8 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="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Hunter Genetics and University of Newcastle</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Hunter Genetics and University of Newcastle</wicri:noRegion></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Services de Génétique-INSERM U316, CHU Bretonneau</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="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Human Genetics, University Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></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="3"><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>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Kuss, Andreas Walter" sort="Kuss, Andreas Walter" uniqKey="Kuss A" first="Andreas Walter" last="Kuss">Andreas Walter 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><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></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="2007">2007</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>Genetic determinism</term><term>Genetic disease</term><term>Genetics</term><term>Interval</term><term>Medical screening</term><term>Mental retardation</term><term>Mutation</term><term>Pathogenesis</term><term>Screening</term><term>Sex linked character</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term><term>Maladie héréditaire</term><term>Chromosome X</term><term>Caractère lié au sexe</term><term>Dépistage</term><term>Pathogénie</term><term>Déterminisme génétique</term><term>Intervalle</term><term>Mutation</term><term>Criblage</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expressed candidate genes located in this interval have been screened for mutations in up to 22 mental retardation (MR) families linked to this region. In total, we have identified 57 sequence variants in exons and splice sites of 27 genes. Based on these data, four novel MR genes were identified, but most of the sequence variants observed during this study have not yet been described. The purpose of this article is to present a comprehensive overview of this work and its outcome. It describes all sequence variants detected in 548 exons and their flanking sequences, including disease-causing mutations as well as possibly relevant polymorphic and silent sequence changes. We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</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="Riff Jensen, Lars" sort="Riff Jensen, Lars" uniqKey="Riff Jensen L" first="Lars" last="Riff Jensen">Lars Riff Jensen</name></region><name sortKey="Chen Wei" sort="Chen Wei" uniqKey="Chen Wei" last="Chen Wei">CHEN WEI</name><name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</name><name sortKey="Kuss, Andreas Walter" sort="Kuss, Andreas Walter" uniqKey="Kuss A" first="Andreas Walter" last="Kuss">Andreas Walter Kuss</name><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></country><country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></region><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country><country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></noRegion></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:07-0423625
|texte= X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11
}}
| This area was generated with Dilib version V0.6.33. |  |