RT Journal Article
SR Electronic
T1 Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 052670
DO 10.1101/052670
A1 Stefan H. Lelieveld
A1 Margot R.F. Reijnders
A1 Rolph Pfundt
A1 Helger G. Yntema
A1 Erik-Jan Kamsteeg
A1 Petra de Vries
A1 Bert B.A. de Vries
A1 Marjolein H. Willemsen
A1 Tjitske Kleefstra
A1 Katharina Löhner
A1 Maaike Vreeburg
A1 Servi Stevens
A1 Ineke van der Burgt
A1 Ernie M.H.F. Bongers
A1 Alexander P.A. Stegmann
A1 Patrick Rump
A1 Tuula Rinne
A1 Marcel R. Nelen
A1 Joris A. Veltman
A1 Lisenka E.L.M. Vissers
A1 Han G. Brunner
A1 Christian Gilissen
YR 2016
UL http://biorxiv.org/content/early/2016/05/11/052670.abstract
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.