Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

ABSTRACT:

Background

Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken.

Methods

We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population.

Results

We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these

SUBMITTER: Matsunami N 

PROVIDER: S-EPMC4098669 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature