RT Journal Article SR Electronic T1 Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism JF bioRxiv FD Cold Spring Harbor Laboratory SP 067454 DO 10.1101/067454 A1 Frederike Leonie Harms A1 Katta Mohan Girisha A1 Andrew A. Hardigan A1 Fanny Kortüm A1 Anju Shukla A1 Malik Alawi A1 Ashwin Dalal A1 Lauren Brady A1 Mark Tarnopolsky A1 Lynne M. Bird A1 Sophia Ceulemans A1 Martina Bebin A1 Kevin M. Bowling A1 Susan M. Hiatt A1 Edward J. Lose A1 Michelle Primiano A1 Wendy K. Chung A1 Jane Juusola A1 Zeynep C. Akdemir A1 Matthew Bainbridge A1 Wu-Lin Charng A1 Margaret Drummond-Borg A1 Mohammad K. Eldomery A1 Ayman W. El-Hattab A1 Mohammed A.M. Saleh A1 Stéphane Beziéau A1 Benjamin Cogné A1 Bertrand Isidor A1 Sébastien Küry A1 James R. Lupski A1 Richard M. Myers A1 Gregory M. Cooper A1 Kerstin Kutsche YR 2016 UL http://biorxiv.org/content/early/2016/08/03/067454.abstract AB From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChlP-seq experiments collectively show that the mutations are deleterious and impair EBF3 transcriptional regulation. These findings demonstrate that EBF3-mediated dysregulation of gene expression has profound effects on neuronal development in humans.