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

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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., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., Tzschach, A., Kalscheuer, V.M., Meloni, I., Raynaud, M., van Esch, H., Chelly, J., de Brouwer, A.P., Hackett, A., van der Haar, S., Henn, W., Gecz, J., Riess, O., Bonin, M., Reinhardt, R., 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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