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

Item Type:	Article
Title:	Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Creators Name:	Jensen, L.R. and Chen, W. and Moser, B. and Lipkowitz, B. and Schroeder, C. and Musante, L. and Tzschach, A. and Kalscheuer, V.M. and Meloni, I. and Raynaud, M. and van Esch, H. and Chelly, J. and de Brouwer, A.P. and Hackett, A. and van der Haar, S. and Henn, W. and Gecz, J. and Riess, O. and Bonin, M. and Reinhardt, R. and Ropers, H.H. and Kuss, A.W.
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
Source:	European Journal of Human Genetics
ISSN:	1018-4813
Publisher:	Nature Publishing Group
Volume:	19
Number:	6
Page Range:	717-720
Date:	June 2011
Official Publication:	https://doi.org/10.1038/ejhg.2010.244
PubMed:	View item in PubMed

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