作者
Anath C Lionel, Kristiina Tammimies, Andrea K Vaags, Jill A Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra K Runke, Vamsee K Pillalamarri, Melissa T Carter, Matthew J Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone W Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton-Smith, Ann C White, Susan Leather, John Trounce, H Melanie Bedford, Eli Hatchwell, Peggy S Eis, Ryan KC Yuen, Susan Walker, Mohammed Uddin, Michael T Geraghty, Sarah M Nikkel, Eva M Tomiak, Bridget A Fernandez, Noam Soreni, Jennifer Crosbie, Paul D Arnold, Russell J Schachar, Wendy Roberts, Andrew D Paterson, Joyce So, Peter Szatmari, Christina Chrysler, Marc Woodbury-Smith, R Brian Lowry, Lonnie Zwaigenbaum, Divya Mandyam, John Wei, Jeffrey R MacDonald, Jennifer L Howe, Thomas Nalpathamkalam, Zhuozhi Wang, Daniel Tolson, David S Cobb, Timothy M Wilks, Mark J Sorensen, Patricia I Bader, Yu An, Bai-Lin Wu, Sebastiano Antonino Musumeci, Corrado Romano, Diana Postorivo, Anna M Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch-Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Yiping Shen, Jennelle C Hodge, Michael E Talkowski, Dimitri J Stavropoulos, Christian R Marshall, Stephen W Scherer
发表日期
2014/5/15
期刊
Human molecular genetics
卷号
23
期号
10
页码范围
2752-2768
出版商
Oxford University Press
简介
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3′ terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the …
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AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld… - Human molecular genetics, 2014