1. Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
- Author
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Jensen, Lars R., Wei Chen, 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, and Reinhardt, Richard
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X-linked intellectual disabilities , *GENETIC mutation , *DEVELOPMENTAL disabilities , *MENTAL illness genetics , *ETIOLOGY of diseases , *MOLECULAR genetics , *NUCLEOTIDE sequence , *GENETICS - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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