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Identifying and Understanding the Actions of Autism Susceptibility Genes

Autism spectrum disorders usually arise through the inheritance of a relatively small number of susceptibility genes, but these genes cause a very variable behavioral phenotype that can include milder but related difficulties in relatives. The investigators identified several candidate susceptibility genes within replicated regions of linkage on chromosomes 7 and 2 and type densed genetic markers in these genes and regions in a new set of families to identify the specific genetic variants that predispose to autism. They had previously assessed relatives using interview measures of socio-communication difficulties and repetitive/rigid behaviors and administered specific tests of social cognition and face recognition. The investigators dimensionalized the autism phenotype in two independent ways and used this information to aid in gene identification. After susceptibility genes were identified, they  investigated their molecular function. Additionally the investigators used magnetoencephalography in a stratified sample of relatives to understand how the brain basis of a typical social difficulty (face processing) varies across the behavioral phenotype and how this relates to changes in the way the brain processes language information.