PT  - JOURNAL ARTICLE
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
TI  - Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability
AID  - 10.1101/052670
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 052670
4099  - http://biorxiv.org/content/early/2016/05/11/052670.short
4100  - http://biorxiv.org/content/early/2016/05/11/052670.full
AB  - 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.