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https://hdl.handle.net/2440/68528
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Type: | Journal article |
Title: | Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 |
Author: | Jensen, L. Wei, C. Moser, B. Lipkowitz, B. Schroeder, C. Musante, L. Tzschach, A. Kalscheuer, V. Meloni, I. Raynaud, M. Van Esch, H. Chelly, J. de Brouwer, A. Hackett, A. van der Haar, S. Henn, W. Gecz, J. Riess, O. Bonin, M. Reinhardt, R. et al. |
Citation: | European Journal of Human Genetics, 2011; 19(6):717-720 |
Publisher: | Nature Publishing Group |
Issue Date: | 2011 |
ISSN: | 1018-4813 1476-5438 |
Statement of Responsibility: | Lars R Jensen... Jozef Gecz... et al. |
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. |
Keywords: | X-linked intellectual disability X-linked mental retardation array-based resequencing mutation analysis automated PCR |
Rights: | © 2011 Macmillan Publishers Limited. All rights reserved. |
DOI: | 10.1038/ejhg.2010.244 |
Published version: | http://dx.doi.org/10.1038/ejhg.2010.244 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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