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X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11

Identifieur interne : 003507 ( PascalFrancis/Checkpoint ); précédent : 003506; suivant : 003508

X-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 :

RBID : Pascal:07-0423625

Descripteurs français

English descriptors

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.


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Pascal:07-0423625

Le document en format XML

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<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>
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<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>
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<term>Génétique</term>
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<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>
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<s1>X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4Mb interval in Xp11</s1>
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<s3>BEL</s3>
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<s0>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.</s0>
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