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Review
. 2016 Sep;19(9):1194-6.
doi: 10.1038/nn.4352. Epub 2016 Aug 1.

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

Stefan H Lelieveld  1 , Margot R F Reijnders  2 , Rolph Pfundt  2 , Helger G Yntema  2 , Erik-Jan Kamsteeg  2 , Petra de Vries  2 , Bert B A de Vries  2 , Marjolein H Willemsen  2 , Tjitske Kleefstra  2 , Katharina Löhner  3 , Maaike Vreeburg  4 , Servi J C Stevens  4 , Ineke van der Burgt  2 , Ernie M H F Bongers  2 , Alexander P A Stegmann  4 , Patrick Rump  3 , Tuula Rinne  2 , Marcel R Nelen  2 , Joris A Veltman  2   4 , Lisenka E L M Vissers  2 , Han G Brunner  2   4 , Christian Gilissen  2
Affiliations
Review

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

Stefan H Lelieveld et al. Nat Neurosci. 2016 Sep.

Abstract

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.

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