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Related Experiment Video

Updated: Apr 20, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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

B J O'Roak¹, H A Stessman¹, E A Boyle¹

¹Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.

Nature Communications

|November 25, 2014

Summary

Researchers identified nine autism spectrum disorder (ASD) risk genes by resequencing neurodevelopmental genes in thousands of individuals. Mutation carriers showed lower IQs and increased seizures, suggesting distinct genetic subtypes of autism.

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Area of Science:

Genetics
Neurodevelopmental Disorders
Autism Spectrum Disorder Research

Background:

Autism spectrum disorder (ASD) possesses a significant, yet intricate, genetic basis.
Identifying specific genetic factors contributing to ASD is crucial for understanding its etiology.

Purpose of the Study:

To resequence 64 candidate neurodevelopmental disorder risk genes in a large cohort of individuals with and without ASD.
To identify novel genetic risk factors and characterize the phenotypic impact of mutations in these genes.

Main Methods:

Whole-exome sequencing of 64 candidate genes in 5,979 individuals (3,486 probands, 2,493 unaffected siblings).
Analysis of de novo mutations and their association with clinical phenotypes, including IQ and seizures.

Main Results:

A significant burden of de novo point mutations was observed in the studied candidate genes.
Nine genes, including CHD2, SYNGAP1, TRIP12, and PAX5, were implicated in ASD risk.
Mutation carriers exhibited lower IQ scores and a higher prevalence of seizures.

Conclusions:

The findings implicate specific genes in the genetic architecture of ASD.
These results contribute to distinguishing genetically distinct subtypes of autism.
This genetic stratification may inform future etiological classification and therapeutic strategies for ASD.