Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability


To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.

DOI: 10.1038/nn.4352

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@article{Lelieveld2016MetaanalysisO2, title={Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability}, author={Stefan H. Lelieveld and Margot R F Reijnders and Rolph Pfundt and Helger G. Yntema and Erik-Jan Kamsteeg and Petra F de Vries and Bert B. A. de Vries and Marjolein H. Willemsen and Tjitske Kleefstra and Katharina L{\"{o}hner and M. A. C. Vreeburg and Servi J. C. Stevens and Ineke van der Burgt and Ernie M. H. F. Bongers and Alexander P.A. Stegmann and Patrick Rump and Tuula Rinne and Marcel R. Nelen and Joris A. Veltman and Lisenka E L M Vissers and Han G. Brunner and Christian Gilissen}, journal={Nature Neuroscience}, year={2016}, volume={19}, pages={1194-1196} }