Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

ABSTRACT:

Background

Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders.

Methods

We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We als

SUBMITTER: Gregory SG 

PROVIDER: S-EPMC2774338 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature