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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 334088.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Authors:Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter
Date of Publication (YYYY-MM-DD):2007-01-01
Title of Journal:European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Issue / Number:1
Start Page:68
End Page:75
Copyright:© 2008 European Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description: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 7.4 Mb 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.
Free Keywords:MRX, mutation screening, X-linked mental retardation, Xp11
Comment of the Author/Creator:Correspondence: Professor H-H Ropers, Max Planck Institute of Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany. Tel: +49 3084131241; Fax: +49 3084131383; E-mail: ropers@molgen.mpg.de
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium;
2.Département de Génétique et Pathologie Moléculaire, Institut Cochin, Paris, France;
3.Hunter Genetics and University of Newcastle, New South Wales, Australia;
4.Services de Génétique-INSERM U316, CHU Bretonneau, Tours, France;
5.Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands.
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