| Literature DB >> 28263302 |
Ryan K C Yuen1, Daniele Merico1,2, Matt Bookman3,4, Jennifer L Howe1, Bhooma Thiruvahindrapuram1, Rohan V Patel1, Joe Whitney1, Nicole Deflaux3,4, Jonathan Bingham3,4, Zhuozhi Wang1, Giovanna Pellecchia1, Janet A Buchanan1, Susan Walker1, Christian R Marshall1,5, Mohammed Uddin1, Mehdi Zarrei1, Eric Deneault1, Lia D'Abate1,6, Ada J S Chan1,6, Stephanie Koyanagi1, Tara Paton1, Sergio L Pereira1, Ny Hoang1,7, Worrawat Engchuan1, Edward J Higginbotham1, Karen Ho1, Sylvia Lamoureux1, Weili Li1, Jeffrey R MacDonald1, Thomas Nalpathamkalam1, Wilson W L Sung1, Fiona J Tsoi1, John Wei1, Lizhen Xu1, Anne-Marie Tasse8, Emily Kirby8, William Van Etten9, Simon Twigger9, Wendy Roberts7, Irene Drmic1,7, Sanne Jilderda1,7, Bonnie MacKinnon Modi1,7, Barbara Kellam1, Michael Szego1,10, Cheryl Cytrynbaum6,10,11,12, Rosanna Weksberg6,11,12, Lonnie Zwaigenbaum13, Marc Woodbury-Smith1,14, Jessica Brian15, Lili Senman15, Alana Iaboni15, Krissy Doyle-Thomas15, Ann Thompson14, Christina Chrysler14, Jonathan Leef15, Tal Savion-Lemieux16, Isabel M Smith17, Xudong Liu18, Rob Nicolson19,20, Vicki Seifer21, Angie Fedele21, Edwin H Cook22, Stephen Dager23, Annette Estes24, Louise Gallagher25, Beth A Malow26, Jeremy R Parr27, Sarah J Spence28, Jacob Vorstman29, Brendan J Frey2,30, James T Robinson31, Lisa J Strug1,32, Bridget A Fernandez33, Mayada Elsabbagh16, Melissa T Carter12,34, Joachim Hallmayer35, Bartha M Knoppers36, Evdokia Anagnostou15, Peter Szatmari37,38,39, Robert H Ring40, David Glazer3,4, Mathew T Pletcher21, Stephen W Scherer1,6,41.
Abstract
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.Entities:
Mesh：
Year: 2017 PMID： 28263302 PMCID： PMC5501701 DOI： 10.1038/nn.4524
Source DB: PubMed Journal: Nat Neurosci ISSN： 1097-6256 Impact factor: 24.884