Skip to Content
June 5, 2012
Families participating in research studies contribute to the identification of new genes

Tags: Research; Science News

Researchers from 15 institutions, led by Massachusetts General Hospital, Harvard Medical School and the Broad Institute, discovered 33 genes associated with autism and other developmental disorders (NDD), including 22 novel genes not previously linked to autism or NDD.  The researchers used a strategy that involved sequencing individuals with balanced chromosomal abnormalities (BCA).  In genetics, when a chromosome replicates, sometimes there is an exchange of genetic material.  This exchange, a BCA, can cause rearrangements in genes.  These BCAs represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs) because they are generally not detected by studies investigating gains and losses of DNA.

Sequencing BCAs in patients with autism or related NDDs revealed disruption of genes that were distributed into four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).”  The researchers also found an increased risk for both autism and schizophrenia compared to control populations when common changes in the DNA occurred within these 33 genes.  This suggests a model where disruptions in several genes in an individual may lead to autism and other NDDs.

The samples and data used by the Boston area researchers were from the families that participated in the regional study: “Phenotypic and Genetic Factors in Autism Spectrum Disorders”.  Families participated from Boston Medical Center, Boston Children’s Hospital, The Floating Hospital for Children at Tufts Medical Center, and UMass Medical Center.  Thank you to the families that participated in this important study!


Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji-Hyun Lee, Kyungsoo Ha, Hyung-Goo Kim, Benjamin D. Solomon, Andrea L. Gropman, Diane Lucente, Katherine Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley Quade, Kasper Lage, Judith Miles, Bai-Lin Wu, Yiping Shen, Benjamin Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries. Cell, 2012; DOI: 10.1016/j.cell.2012.03.028


Questions or Comments