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Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595.

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

Author information

1
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
2
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA.
3
1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.

Abstract

Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes. These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5. We also show that mutation carriers generally have lower IQs and enrichment for seizures. These data begin to distinguish genetically distinct subtypes of autism important for aetiological classification and future therapeutics.

PMID:
25418537
PMCID:
PMC4249945
DOI:
10.1038/ncomms6595
[Indexed for MEDLINE]
Free PMC Article

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