Article
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Nature neuroscience - 1 Sept 2016
Lelieveld Stefan H, Reijnders Margot R F, Pfundt Rolph, Yntema Helger G, Kamsteeg Erik-Jan, de Vries Petra, de Vries Bert B A, Willemsen Marjolein H, Kleefstra Tjitske, Löhner Katharina, Vreeburg Maaike, Stevens Servi J C, van der Burgt Ineke, Bongers Ernie M H F, Stegmann Alexander P A, Rump Patrick, Rinne Tuula, Nelen Marcel R, Veltman Joris A, Vissers Lisenka E L M, Brunner Han G, Gilissen Christian
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.