Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability
Stefan H. Lelieveld,
Margot R.F. Reijnders,
Helger G. Yntema,
Petra de Vries,
Bert B.A. de Vries,
Marjolein H. Willemsen,
Ineke van der Burgt,
Ernie M.H.F. Bongers,
Alexander P.A. Stegmann,
Marcel R. Nelen,
Joris A. Veltman,
Han G Brunner,
Posted 11 May 2016
bioRxiv DOI: 10.1101/052670 (published DOI: 10.1038/nn.4352)
Posted 11 May 2016
To identify novel candidate intellectual disability genes, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 ID trios. Statistical analyses identified 10 novel candidate ID genes, including DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to non-synonymous variation, and that mutations in these genes are associated with specific clinical ID phenotypes.
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