Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

• Published in: Cell Vol. 149; no. 3; pp. 525 - 537
• Main Authors: Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 27.04.2012
• Subjects: alleles; Autism; Autistic Disorder - diagnosis; Autistic Disorder - genetics; Boundaries; Child; Child Development Disorders, Pervasive - diagnosis; Child Development Disorders, Pervasive - genetics; Chromosome Aberrations; Chromosome Breakage; Chromosome Deletion; Developmental stages; DNA Copy Number Variations; Foxp1 protein; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; loci; Mental disorders; Nervous System - growth & development; neurodevelopment; Neurodevelopmental disorders; patients; risk; Schizophrenia; Schizophrenia - genetics; Sequence Analysis, DNA; Signal Transduction

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associate...