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|Title:||Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1|
Van Esch, H.
de Brouwer, A.
van der Haar, S.
|Citation:||European Journal of Human Genetics, 2011; 19(6):717-720|
|Publisher:||Nature Publishing Group|
|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.|
|Appears in Collections:||Paediatrics publications|
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