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Journal article

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

In Cell — 2012, Volume 149, Issue 3, pp. 525-537

By Talkowski, Michael E.1; Rosenfeld, Jill A.5; Blumenthal, Ian6; Pillalamarri, Vamsee6; Chiang, Colby6; Heilbut, Adrian6; Ernst, Carl6; Hanscom, Carrie6; Rossin, Elizabeth6; Lindgren, Amelia M.7; Pereira, Shahrin7; Ruderfer, Douglas8; Kirby, Andrew6; Ripke, Stephan6; Harris, David J.9; Lee, Ji-Hyun6; Ha, Kyungsoo10; Kim, Hyung-Goo10; Solomon, Benjamin D.11; Gropman, Andrea L.12; Lucente, Diane6; Sims, Katherine6; Ohsumi, Toshiro K.6; Borowsky, Mark L.6; Loranger, Stephanie8; Quade, Bradley6; Hansen, Kasper Lage2,3; Miles, Judith4; Wu, Bai-Lin6; Shen, Yiping6; Neale, Benjamin6; Shaffer, Lisa G.5; Daly, Mark J.6; Morton, Cynthia C.1; Gusella, James F.6 ...and 25 more

From

Broad Institute of Harvard University and Massachusetts Institute of Technology1

Department of Systems Biology, Technical University of Denmark2

Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark3

University of Missouri4

PerkinElmer, Inc.5

Massachusetts General Hospital6

Brigham and Women’s Hospital7

Autism Consortium of Boston8

Boston Children's Hospital9

Georgia Health Sciences University10

National Human Genome Research Institute11

Children's National Medical Center12

...and 2 more

Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model for autism and provide new insight into how different types of mutations of the same genes can lead to variable disease phenotypes that manifest at different stages of life.

Language: English
Publisher: Elsevier BV
Year: 2012
Pages: 525-537
ISSN: 10974172 and 00928674
Types: Journal article
DOI: 10.1016/j.cell.2012.03.028
Keywords

Autistic Disorder Child Child Development Disorders, Pervasive Chromosome Aberrations Chromosome Breakage Chromosome Deletion DNA Copy Number Variations Genetic Predisposition to Disease Genome-Wide Association Study Humans Nervous System Schizophrenia Sequence Analysis, DNA Signal Transduction

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