作者
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson, Christopher E Mason, Kaya Bilguvar, Patricia BS Celestino-Soper, Murim Choi, Emily L Crawford, Lea Davis, Nicole R Davis Wright, Rahul M Dhodapkar, Michael DiCola, Nicholas M DiLullo, Thomas V Fernandez, Vikram Fielding-Singh, Daniel O Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald S Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K Lowe, Sabata C Lund, Anna D McGrew, Kyle A Meyer, William J Moffat, John D Murdoch, Brian J O'Roak, Gordon T Ober, Rebecca S Pottenger, Melanie J Raubeson, Youeun Song, Qi Wang, Brian L Yaspan, W Yu Timothy, Ilana R Yurkiewicz, Arthur L Beaudet, Rita M Cantor, Martin Curland, Dorothy E Grice, Murat Günel, Richard P Lifton, Shrikant M Mane, Donna M Martin, Chad A Shaw, Michael Sheldon, Jay A Tischfield, Christopher A Walsh, Eric M Morrow, David H Ledbetter, Eric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I Brooks, James S Sutcliffe, Edwin H Cook, Daniel Geschwind, Kathryn Roeder, Bernie Devlin
发表日期
2011/6/9
期刊
Neuron
卷号
70
期号
5
页码范围
863-885
出版商
Elsevier
简介
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6–12.0, p = 2.4 × 10-7). We estimate there are 130–234 ASD-related CNV regions in the human genome and present compelling …
引用总数
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