Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

Autor: Patricia I. Bader, Christina Chrysler, Pietro Cavalli, Mohammed Uddin, Carlo Poggiani, Noam Soreni, Andrew D. Paterson, Roberto Ciccone, Diana Postorivo, Sebastiano A. Musumeci, Lonnie Zwaigenbaum, Eli Hatchwell, Michael E. Talkowski, Sarah M. Nikkel, Paul D. Arnold, H. Melanie Bedford, Vincenzo Antona, Sylvia Lamoureux, Caroline Mackie Ogilvie, Timothy Wilks, John Wei, Eva M Tomiak, Ugo Cavallari, Marc Woodbury-Smith, Orsetta Zuffardi, Susan Walker, Bob Argiropoulos, Judy Chernos, Charu Deshpande, Jeffrey R. MacDonald, Bai-Lin Wu, Thomas Nalpathamkalam, Lone W. Laulund, Anna Maria Nardone, Gioacchino Scarano, Bridget A. Fernandez, Christian R. Marshall, John Trounce, Susan Leather, Peter Szatmari, Anath C. Lionel, Jennelle C. Hodge, Ann C White, Dimitri J. Stavropoulos, Matteo Della Monica, David S Cobb, Cassandra K. Runke, Zhuozhi Wang, Corrado Romano, Michael T. Geraghty, Leopoldo Zelante, Joo Wook Ahn, Matthew J. Gazzellone, Leonardo Zoccante, Marsha Speevak, Bhooma Thiruvahindrapuram, Russell Schachar, Jennifer L. Howe, Jill Clayton-Smith, Christina Fagerberg, R. Brian Lowry, Francesca Novara, Marco Fichera, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Stephen W. Scherer, Giovanna Pellecchia, Divya Mandyam, Vamsee Pillalamarri, Yu An, Wendy Roberts, Abdul Noor, Daniel Tolson, Melissa T. Carter, Peggy S. Eis, Joyce So, Jennifer Crosbie, Massimo Carella, Ryan K. C. Yuen, Andrea K. Vaags, Mark J Sorensen, Daniele Merico, Kristiina Tammimies, Yiping Shen

Publikováno v: Lionel, A C, Tammimies, K, Vaags, A K, Rosenfeld, J A, Ahn, J W, Merico, D, Noor, A, Runke, C K, Pillalamarri, V K, Carter, M T, Gazzellone, M J, Thiruvahindrapuram, B, Fagerberg, C R, Laulund, L W, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, A C, Leather, S, Trounce, J, Bedford, H M, Hatchwell, E, Eis, P S, Yuen, R K C, Walker, S, Uddin, M, Geraghty, M T, Nikkel, S M, Tomiak, E M, Fernandez, B A, Soreni, N, Crosbie, J, Arnold, P D, Schachar, R J, Roberts, W, Paterson, A D, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, R B, Zwaigenbaum, L, Mandyam, D, Wei, J, Macdonald, J R, Howe, J L, Nalpathamkalam, T, Wang, Z, Tolson, D, Cobb, D S, Wilks, T M, Sorensen, M J, Bader, P I, An, Y, Wu, B-L, Musumeci, S A, Romano, C, Postorivo, D, Nardone, A M, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, C M, Shen, Y, Hodge, J C, Talkowski, M E, Stavropoulos, D J, Marshall, C R & Scherer, S W 2014, ' Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes ', Human Molecular Genetics, vol. 23, no. 10, ddt669, pp. 2752-2768 . https://doi.org/10.1093/hmg/ddt669
Human molecular genetics, vol 23, iss 10

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

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