Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Several lines of evidence point to genetic involvement in autism spectrum disorders (ASDs), neurodevelopmental and neuropsychiatric disorders characterized by impaired verbal communication and social interaction. The clinical and genetic complexities of the condition make it difficult to identify susceptibility factors, but two related studies now present robust evidence for a genetic involvement. The first, a genome-wide association study, identifies six single-nucleotide polymorphisms strongly associated with autism. These variants lie between two genes encoding neuronal cell-adhesion molecules (cadherins 9 and 10), suggesting possible involvement in ASD pathogenesis. The second study used copy number…

• AS
  Autism Speaks
• UD
  U.S. Department of Veterans Affairs
• CH
  Children's Hospital of Philadelphia

  Award: UL1-RR024134
• VU
  Vanderbilt University
• UO
  University of Pennsylvania
• UO
  University of Washington
• UO
  University of Pittsburgh
• HR
  Health Research Board
• CF
  Cotswold Foundation
• UO
  University of Illinois at Urbana-Champaign
• UO
  University of North Carolina at Chapel Hill
• VK
  Vanderbilt Kennedy Center, Vanderbilt University Medical Center
• MR
  Medical Research Council
• NI
  National Institute of Mental Health

  Awards: U10MH66766, 1U24MH081810