Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H LelieveldMargot R F ReijndersRolph PfundtHelger G YntemaErik-Jan KamsteegPetra de VriesBert B A de VriesMarjolein H WillemsenTjitske KleefstraKatharina LöhnerMaaike VreeburgServi J C StevensIneke van der BurgtErnie M H F BongersAlexander P A StegmannPatrick RumpTuula RinneMarcel R NelenJoris A VeltmanLisenka E L M VissersHan G BrunnerChristian GilissenPublished in: Nature neuroscience (2016)
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.