Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

ABSTRACT:

Background

Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Despite overwhelming evidence of high heritability, results from genetic studies to date show that ASD etiology is extremely heterogeneous and only a fraction of autism genes have been discovered.

Methods

To help unravel this genetic complexity, we performed whole exome sequencing on 100 ASD individuals from 40 families with multiple distantly related affected individuals. All families contained a minimum of one pair of ASD cousins. Each individual was captured with the Agilent SureSelect Human All Exon kit, sequenced on the Illumina Hiseq 2000, and the resulting

SUBMITTER: Cukier HN 

PROVIDER: S-EPMC3896704 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature