Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Andrea K. Vaags, Anath C. Lionel, Daisuke Sato, McKinsey Goodenberger, Quinn P. Stein, Sarah Curran, Caroline Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman, Christina Chrysler, Ann Thompson, Carolyn Russell, Aparna Prasad, Susan Walker, Dalila Pinto, Christian R. Marshall, Dimitri J. Stavropoulos, Lonnie Zwaigenbaum, Bridget A. Fernandez, Eric Fombonne, Patrick F. Bolton, David A. Collier, Jennelle C. Hodge, Wendy Roberts, Peter Szatmari, Stephen W. Scherer The American Journal of Human Genetics Volume 90, Issue 1, Pages 133-141 (January 2012) DOI: 10.1016/j.ajhg.2011.11.025 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Four Unrelated Families with Deletions at the NRXN3 Locus Black-filled symbols represent ASD-affected individuals, gray-filled symbols represent broader autism phenotype (BAP)-affected individuals, and unfilled symbols represent apparently unaffected individuals. Probands are marked with an arrow. Clinical diagnosis and segregation of the NRXN3 deletions are shown. Children are placed left to right in birth order from eldest to youngest. Other CNVs and genetic variants are found in Tables S1, S2, and S4–S7. Abbreviations are as follows: ADHD, attention deficit hyperactivity disorder; OCD, obsessive compulsive disorder; and NA, not assessed. The American Journal of Human Genetics 2012 90, 133-141DOI: (10.1016/j.ajhg.2011.11.025) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Extent of Genomic NRXN3 Deletions at Chromosomal Region 14q24.3-q31.1 Deletions are shown in red. CNVs detected in control populations (described in this paper) and from the Database of Genomic Variants55, 56 are also shown. Genomic coordinates and isoform information are from hg18. Control data are as described in this paper. The American Journal of Human Genetics 2012 90, 133-141DOI: (10.1016/j.ajhg.2011.11.025) Copyright © 2012 The American Society of Human Genetics Terms and Conditions