Title: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Authors: Jensen, Lars R ×
Chen, Wei
Moser, Bettina
Lipkowitz, Bettina
Schroeder, Christopher
Musante, Luciana
Tzschach, Andreas
Kalscheuer, Vera M
Meloni, Ilaria
Raynaud, Martine
Van Esch, Hilde
Chelly, Jamel
de Brouwer, Arjan P M
Hackett, Anna
van der Haar, Sigrun
Henn, Wolfram
Gecz, Jozef
Riess, Olaf
Bonin, Michael
Reinhardt, Richard
Ropers, Hans-Hilger
Kuss, Andreas W #
Issue Date: Jun-2011
Publisher: Karger
Series Title: European Journal of Human Genetics vol:19 issue:6 pages:717-720
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.European Journal of Human Genetics advance online publication, 26 January 2011; doi:10.1038/ejhg.2010.244.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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