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

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

doi:10.1093/hmg/ddt669

Public

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

Published in Human Molecular Genetics • Dec 30, 2013

Authors:

A. C. Lionel

Kristiina Tammimies

Andrea K. Vaags

Abstract

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 mig...

Subject

Biology

Autism

Phenotype

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