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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Acknowledgements
We thank Sven Poths for technical assistance. This study was supported by the Max Planck Innovation Fund. Additional funding was provided to HHR by the German Federal Ministry of Education and Research (MRNET 01GS08161-2).
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Databases
UCSC Genome Browser: http://genome.ucsc.edu/cgi-bin/hgTracks?org=human
The Human Gene Mutation Database: http://www.hgmd.cf.ac.uk/ac/validate.php
Ensembl: http://www.ensembl.org/index.html
Euro-MRX Consortium: http://www.euromrx.com
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Jensen, L., Chen, W., Moser, B. et al. 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, 717–720 (2011). https://doi.org/10.1038/ejhg.2010.244
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DOI: https://doi.org/10.1038/ejhg.2010.244
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