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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
Statement of
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
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Paediatrics publications

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