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Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Author information

1
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
2
Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
3
Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
4
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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.

PMID:
27479843
DOI:
10.1038/nn.4352
[Indexed for MEDLINE]

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