TY - JOUR T1 - Mutations in <em>EBF3</em> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism JF - bioRxiv DO - 10.1101/067454 SP - 067454 AU - Frederike Leonie Harms AU - Katta Mohan Girisha AU - Andrew A. Hardigan AU - Fanny Kortüm AU - Anju Shukla AU - Malik Alawi AU - Ashwin Dalal AU - Lauren Brady AU - Mark Tarnopolsky AU - Lynne M. Bird AU - Sophia Ceulemans AU - Martina Bebin AU - Kevin M. Bowling AU - Susan M. Hiatt AU - Edward J. Lose AU - Michelle Primiano AU - Wendy K. Chung AU - Jane Juusola AU - Zeynep C. Akdemir AU - Matthew Bainbridge AU - Wu-Lin Charng AU - Margaret Drummond-Borg AU - Mohammad K. Eldomery AU - Ayman W. El-Hattab AU - Mohammed A.M. Saleh AU - Stéphane Beziéau AU - Benjamin Cogné AU - Bertrand Isidor AU - Sébastien Küry AU - James R. Lupski AU - Richard M. Myers AU - Gregory M. Cooper AU - Kerstin Kutsche Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/08/03/067454.abstract N2 - 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. ER -