作者
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma’Ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov, Paz Polak, Seungtai Yoon, Jared Maguire, Emily L Crawford, Nicholas G Campbell, Evan T Geller, Otto Valladares, Chad Schafer, Han Liu, Tuo Zhao, Guiqing Cai, Jayon Lihm, Ruth Dannenfelser, Omar Jabado, Zuleyma Peralta, Uma Nagaswamy, Donna Muzny, Jeffrey G Reid, Irene Newsham, Yuanqing Wu, Lora Lewis, Yi Han, Benjamin F Voight, Elaine Lim, Elizabeth Rossin, Andrew Kirby, Jason Flannick, Menachem Fromer, Khalid Shakir, Tim Fennell, Kiran Garimella, Eric Banks, Ryan Poplin, Stacey Gabriel, Mark DePristo, Jack R Wimbish, Braden E Boone, Shawn E Levy, Catalina Betancur, Shamil Sunyaev, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook Jr, Bernie Devlin, Richard A Gibbs, Kathryn Roeder, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly
发表日期
2012/5/10
期刊
Nature
卷号
485
期号
7397
页码范围
242-245
出版商
Nature Publishing Group UK
简介
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified,. To identify further genetic risk factors, here we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n = 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant, and the overall rate of mutation is only modestly higher than the expected rate. In contrast, the proteins encoded by genes that harboured de novo missense or nonsense mutations showed a higher degree of connectivity among themselves and to previous ASD genes as indexed by protein-protein interaction screens. The small increase in the rate of de novo events, when taken together with the protein interaction results, are consistent with an important but limited role for de novo point mutations in ASD …
引用总数
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BM Neale, Y Kou, L Liu, A Ma'Ayan, KE Samocha… - Nature, 2012