Article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020
Mirzaa Ghayda M, Chong Jessica X, Piton Amélie, Popp Bernt, Foss Kimberly, Guo Hui, Harripaul Ricardo, Xia Kun, Scheck Joshua, Aldinger Kimberly A, Sajan Samin A, Tang Sha, Bonneau Dominique, Beck Anita, White Janson, Mahida Sonal, Harris Jacqueline, Smith-Hicks Constance, Hoyer Juliane, Zweier Christiane, Reis André, Thiel Christian T, Jamra Rami Abou, Zeid Natasha, Yang Amy, Farach Laura S, Walsh Laurence, Payne Katelyn, Rohena Luis, Velinov Milen, Ziegler Alban, Schaefer Elise, Gatinois Vincent, Geneviève David, Simon Marleen E H, Kohler Jennefer, Rotenberg Joshua, Wheeler Patricia, Larson Austin, Ernst Michelle E, Akman Cigdem I, Westman Rachel, Blanchet Patricia, Schillaci Lori-Anne, Vincent-Delorme Catherine, Gripp Karen W, Mattioli Francesca, Guyader Gwenaël Le, Gerard Bénédicte, Mathieu-Dramard Michèle, Morin Gilles, Sasanfar Roksana, Ayub Muhammad, Vasli Nasim, Yang Sandra, Person Rick, Monaghan Kristin G, Nickerson Deborah A, van Binsbergen Ellen, Enns Gregory M, Dries Annika M, Rowe Leah J, Tsai Anne C H, Svihovec Shayna, Friedman Jennifer, Agha Zehra, Qamar Raheel, Rodan Lance H, Martinez-Agosto Julian, Ockeloen Charlotte W, Vincent Marie, Sunderland William James, Bernstein Jonathan A, Eichler Evan E, Vincent John B, Bamshad Michael J
Abstract excerpt
PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that...
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