| Literature DB >> 21267006 |
Lars R Jensen1, Wei Chen, Bettina Moser, Bettina Lipkowitz, Christopher Schroeder, Luciana Musante, Andreas Tzschach, Vera M Kalscheuer, Ilaria Meloni, Martine Raynaud, Hilde van Esch, Jamel Chelly, Arjan P M de Brouwer, Anna Hackett, Sigrun van der Haar, Wolfram Henn, Jozef Gecz, Olaf Riess, Michael Bonin, Richard Reinhardt, Hans-Hilger Ropers, Andreas W Kuss.
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.Entities:
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Year: 2011 PMID： 21267006 PMCID： PMC3110040 DOI： 10.1038/ejhg.2010.244
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246