Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brügger, Katheryn Grand, Kirsty McWalter, María J. Guillen Sacoto, Emma Wakeling, Jane A. Hurst, Michael March, Elizabeth Bhoj, Małgorzata J.M. Nowaczyk, Claudia Gonzaga‐Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julián A. Martínez-Agosto, Eva Maria Christina Schwaibold, Theresa Brunet, Daniela Choukair, Lynn Pais, Susan M. White, John Christodoulou, Dana Brown, Kristin Lindstrom, Theresa A. Grebe, Dov Tiosano, Matthew S. Kayser, Tiong Yang Tan, Matthew A. Deardorff, Yuanquan Song, Håkon Håkonarson
Abstract
Exome sequencing and Drosophila modeling revealed variants in SMARCA5 as a novel cause of a neurodevelopmental disorder.