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

Jensen, L. R., Lenzner, S., Mose, B., Freude, K., Tzschach, A., Chen, W., et al. (2007). X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG; the Official Journal of the European Society of Human Genetics, 15(1), 68-75. doi:10.1038/sj.ejhg.5201714.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-828C-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-828D-0
Genre: Journal Article
Alternative Title : Eur J Hum Genet

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 Creators:
Jensen, Lars Riff1, Author              
Lenzner, Steffen2, Author
Mose, Bettina2, Author
Freude, Kristine2, Author
Tzschach, Andreas3, Author              
Chen, Wei3, Author              
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
Turner, Gillian, Author
Moraine, Claude, Author
Hamel, Ben, Author
Ropers, Hans-Hilger3, Author              
Kuss, Andreas walter2, Author
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: MRX, mutation screening, X-linked mental retardation, Xp11
 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 7.4 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.

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Language(s): eng - English
 Dates: 2007-01-01
 Publication Status: Published in print
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Title: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 15 (1) Sequence Number: - Start / End Page: 68 - 75 Identifier: ISSN: 1018-4813