The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.

ABSTRACT: Autism spectrum disorder (ASD) is a highly heritable complex neurodevelopmental condition characterized by impairments in social interaction and communication and restricted and repetitive behaviors. Although roles for both de novo and familial genetic variation have been documented, the underlying disease mechanisms remain poorly elucidated. In this study, we defined and explored distinct etiologies of genetic variants that affect genes regulated by Fragile-X mental retardation protein (FMRP), thought to play a key role in neuroplasticity and neuronal translation, in ASD-affected individuals. In particular, we developed the Trend test, a pathway-association test that is able to robustly detect multiple-hit etiologies and is more powerful than existing approaches. Exploiting detailed spati

SUBMITTER: Steinberg J 

PROVIDER: S-EPMC3824119 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature