Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

ABSTRACT: The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution necessary to move beyond detection of large regions of potential interest to identification of individual genes. To pinpoint genes likely to contribute to ASD etiology, we performed high density genotyping in 912 multiplex families from the Autism Genetics Resource Exchange (AGRE) collection and contrasted results to those obtained for 1,488 healthy controls. Through prioritization of exonic deletions (eDels), exonic duplications (eDups), and whole gene duplication events (gDups), we identified more than 150 loci harboring rare variants in multiple unrelated proban

SUBMITTER: Bucan M 

PROVIDER: S-EPMC2695001 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature