SHANK1 Deletions in Males with Autism Spectrum Disorder

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SHANK1 Deletions in Males with Autism Spectrum Disorder Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Rastam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun A. Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W. Scherer The American Journal of Human Genetics Volume 90, Issue 5, Pages 879-887 (May 2012) DOI: 10.1016/j.ajhg.2012.03.017 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of Family 1 Pedigree of a multigenerational family carrying a rare CNV that deletes one copy of SHANK1. Individuals with ASD and BAP are indicated by filled symbols and striped symbols, respectively. The proband is indicated by an arrow. “WT” indicates individuals that have the typical copy number of two at the SHANK1 locus, and “NA” indicates the unavailability of DNA. The American Journal of Human Genetics 2012 90, 879-887DOI: (10.1016/j.ajhg.2012.03.017) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Rare Deletions at SHANK1 Locus in the Two ASD-Affected Families Chromosomal position of rare deletions of SHANK1 and adjacent genes in ASD. The accurate coordinates for family 1 were mapped by sequencing across the breakpoints and are Chr 19: 55,872,189–55,935,995 (hg18). The de novo deletion of family 2 was detected by microarray and has coordinates Chr 19: 55,808,307–55,871,709 (hg18). The American Journal of Human Genetics 2012 90, 879-887DOI: (10.1016/j.ajhg.2012.03.017) Copyright © 2012 The American Society of Human Genetics Terms and Conditions