TY - JOUR T1 - Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability JF - bioRxiv DO - 10.1101/052670 SP - 052670 AU - Stefan H. Lelieveld AU - Margot R.F. Reijnders AU - Rolph Pfundt AU - Helger G. Yntema AU - Erik-Jan Kamsteeg AU - Petra de Vries AU - Bert B.A. de Vries AU - Marjolein H. Willemsen AU - Tjitske Kleefstra AU - Katharina Löhner AU - Maaike Vreeburg AU - Servi Stevens AU - Ineke van der Burgt AU - Ernie M.H.F. Bongers AU - Alexander P.A. Stegmann AU - Patrick Rump AU - Tuula Rinne AU - Marcel R. Nelen AU - Joris A. Veltman AU - Lisenka E.L.M. Vissers AU - Han G. Brunner AU - Christian Gilissen Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/05/11/052670.abstract N2 - 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. ER -