Authors
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, David R Adams, Christopher J Adams, Mercedes E Alejandro, Patrick Allard, Euan A Ashley, Carlos A Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H Beggs, Hugo J Bellen, Jonathan A Bernstein, David P Bick, Camille L Birch, Braden E Boone, Lauren C Briere, Donna M Brown, Matthew Brush, Lindsay C Burrage, Katherine R Chao, Gary D Clark, Joy D Cogan, Cynthia M Cooper, William J Craigen, Jyoti G Dayal, Esteban C Dell'Angelica, Shweta U Dhar, Katrina M Dipple, Laurel A Donnell-Fink, Naghmeh Dorrani, Dan C Dorset, David D Draper, Annika M Dries, David J Eckstein, Lisa T Emrick, Christine M Eng, Cecilia Esteves, Tyra Estwick, Paul G Fisher, Trevor S Frisby, Kate Frost, William A Gahl, Valerie Gartner, Rena A Godfrey, Mitchell Goheen, Gretchen A Golas, David B Goldstein, Sarah E Gould, Jean-Philippe F Gourdine, Brett H Graham, Catherine A Groden, Andrea L Gropman, Mary E Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A Hanchard, Lori H Handley, Isabel Hardee, Matthew R Herzog, Ingrid A Holm, Ellen M Howerton, Howard J Jacob, Mahim Jain, Yong-hui Jiang, Jean M Johnston, Angela L Jones, Alanna E Koehler, David M Koeller, Isaac S Kohane, Jennefer N Kohler, Donna M Krasnewich, Elizabeth L Krieg, Joel B Krier, Jennifer E Kyle, Seema R Lalani, Lea Latham, Yvonne L Latour, C Christopher Lau, Jozef Lazar, Brendan H Lee, Hane Lee, Paul R Lee, Shawn E Levy, Denise J Levy, Richard A Lewis, Adam P Liebendorder, Sharyn A Lincoln, Carson R Loomis, Joseph Loscalzo, Richard L Maas, Ellen F Macnamara, Calum A MacRae, Valerie V Maduro, May Christine V Malicdan, Laura A Mamounas, Teri A Manolio, Thomas C Markello, Azamian S Mashid, Paul Mazur, Allyn McConkie-Rosell, Alexa T McCray, Thomas O Metz, Matthew Might, Paolo M Moretti, John J Mulvihill, Jennifer L Murphy, Donna M Muzny, Michele E Nehrebecky, Stan F Nelson, J Scott Newberry, John H Newman, Sarah K Nicholas, Donna Novacic, Jordan S Orange, J Carl Pallais, Christina GS Palmer, Jeanette C Papp, Loren DM Pena, John A Phillips, Jennifer E Posey, John H Postlethwait, Lorraine Potocki, Barbara N Pusey, Rachel B Ramoni, Lance H Rodan, Sarah Sadozai, Katherine E Schaffer, Kelly Schoch, Molly C Schroeder, Daryl A Scott, Prashant Sharma, Vandana Shashi, Edwin K Silverman, Janet S Sinsheimer, Ariane G Soldatos, Rebecca C Spillmann, Kimberly Splinter
Publication date
2017/1/5
Journal
The American Journal of Human Genetics
Volume
100
Issue
1
Pages
128-137
Publisher
Elsevier
Description
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression. However, human neurodevelopmental disorders related to EBF3 have not been reported. Here, we describe three individuals who are affected by global developmental delay, intellectual disability, and expressive speech disorder and carry de novo variants in EBF3. Associated features seen in these individuals …
Scholar articles
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld… - The American Journal of Human Genetics, 2017