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

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.

• Publication year

  2016

• Venue

  Nature Neuroscience

• Publication date

  2016-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/nn.4352PMID 27479843
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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