- Title
- Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Creator
- Jensen, Lars R.; Chen, Wei; 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; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.; Lipkowitz, Bettina; Schroeder, Christopher; Musante, Luciana; Tzschach, Andreas; Kalscheuer, Vera M.; Meloni, Ilaria; Raynaud, Martine
- Relation
- European Journal of Human Genetics Vol. 19, Issue 6, p. 717-720
- Publisher Link
- http://dx.doi.org/10.1038/ejhg.2010.244
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2011
- Description
- 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.
- Subject
- X linked intellectual disability; X linked mental retardation; array based resequencing; mutation analysis; automated PCR
- Identifier
- http://hdl.handle.net/1959.13/1044459
- Identifier
- uon:14330
- Identifier
- ISSN:1018-4813
- Language
- eng
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