| Literature DB >> 27479843 |
Stefan H Lelieveld1, Margot R F Reijnders2, Rolph Pfundt2, Helger G Yntema2, Erik-Jan Kamsteeg2, Petra de Vries2, Bert B A de Vries2, Marjolein H Willemsen2, Tjitske Kleefstra2, Katharina Löhner3, Maaike Vreeburg4, Servi J C Stevens4, Ineke van der Burgt2, Ernie M H F Bongers2, Alexander P A Stegmann4, Patrick Rump3, Tuula Rinne2, Marcel R Nelen2, Joris A Veltman2,4, Lisenka E L M Vissers2, Han G Brunner2,4, Christian Gilissen2.
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.Entities:
Mesh：
Substances：
Year: 2016 PMID： 27479843 DOI： 10.1038/nn.4352
Source DB: PubMed Journal: Nat Neurosci ISSN： 1097-6256 Impact factor: 24.884