Affected Sib-Pair Analyses Identify Signaling Networks Associated With Social Behavioral Deficits in Autism.

ABSTRACT: Autism spectrum disorders (ASDs) are characterized by deficits in three core behavioral domains: reciprocal social interactions, communication, and restricted interests and/or repetitive behaviors. Several hundreds of risk genes for autism have been identified, however, it remains a challenge to associate these genes with specific core behavioral deficits. In multiplex autism families, affected sibs often show significant differences in severity of individual core phenotypes. We hypothesize that a higher mutation burden contributes to a larger difference in the severity of specific core phenotypes between affected sibs. We tested this hypothesis on social behavioral deficits in autism. We sequenced synaptome genes (n = 1,886) in affected male sib-pairs (n = 274) in families from the Autism

SUBMITTER: Pirooznia M 

PROVIDER: S-EPMC6892440 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature