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  Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Jensen, L. R., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., et al. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet, 19(6), 717-20. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21267006 http://www.nature.com/ejhg/journal/v19/n6/pdf/ejhg2010244a.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7963-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7964-8
Genre: Journal Article

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Jensen, L. R.1, Author              
Chen, W.2, Author              
Moser, B., Author
Lipkowitz, B.3, Author              
Schroeder, C., Author
Musante, L.3, Author              
Tzschach, A.2, Author              
Kalscheuer, V. M.4, Author              
Meloni, I., Author
Raynaud, M., Author
van Esch, H., Author
Chelly, J., Author
de Brouwer, A. P., Author
Hackett, A., Author
van der Haar, S., Author
Henn, W., Author
Gecz, J., Author
Riess, O., Author
Bonin, M., Author
Reinhardt, R.5, Author              
Ropers, H. H.2, Author              Kuss, A. W.3, Author               more..
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
5High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              

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Free keywords: Carrier Proteins/biosynthesis/*genetics; Chromosomes, Human, X/chemistry; DNA Helicases/biosynthesis/*genetics; Female; Genes, X-Linked; Genetic Association Studies; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hybridization, Genetic; Male; Mental Retardation, X-Linked/*genetics; Nerve Tissue Proteins/biosynthesis/*genetics; Nuclear Proteins/biosynthesis/*genetics; Pedigree; Plasma Membrane Neurotransmitter Transport Proteins/biosynthesis/*genetics; *Polymorphism, Single Nucleotide; Reverse Transcriptase Polymerase Chain Reaction
 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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 Dates: 2011
 Publication Status: Published in print
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Title: Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 19 (6) Sequence Number: - Start / End Page: 717 - 20 Identifier: ISSN: 1476-5438 (Electronic) 1018-4813 (Linking)