@inproceedings{8714354,
  abstract     = {{Intellectual disability (ID) is a very heterogeneous disorder, and hitherto, over 1000 genes have been described to be involved in the etiology of ID. Here, we report on 28 patients with ID and congenital anomalies, and a deletion or protein truncating variant in the ZFHX3 gene. Through a large international collaboration, phenotypical details of all patients were gathered, and the most consistent phenotype of ZFHX3 aberrations has herein been determined by ID, postnatal growth retardation, feeding difficulties and recognizable facial characteristics.
 
ZFHX3 belongs to the family of zinc-finger homeodomain transcription factors and encodes the ATBF1 protein playing a role in multiple biological processes including tumorigenesis and cell differentiation. It has been previously linked to neural differentiation and shows high expression in the developing human brain, but hitherto has never been linked to intellectual disability.
Publicly available and our own data confirm increased expression of ZFHX3 during neural differentiation. Using IP-MS, we identified ZFHX3 interactors belonging to the chromatin remodeling mSWI/SNF complex (BAF complex) and the cleavage and polyadenylation complex (CPC). Further research aims to determine the localization of ZFHX3 in the cell during neural differentiation and to identify the precise role and targets of ZFHX3 in chromatin remodeling and gene transcription. 
In conclusion our study identified ZFHX3 as a novel gene underlying syndromal ID and revealed novel targets in neuronal differentiation and functioning.}},
  author       = {{Pérez Baca, Maria del Rocio and Jacobs, Eva and Vantomme, Lies and Bauer, Mareike and Bellini, Melissa and Beneteau, Claire and Brown, Natasha and Coman, David and De Cock, Laurenz and Dheedene, Annelies and Duelund Hjortshøj, Tine and Lascone, Maria and Hoffmann, Katrin and Isidor, Bertrand and Jones, Julie and Kohlhase, Jürgen and Le Caignec, Cedric and Lovgren, Alysia and Lyons, Mike and Lysy, Philippe and Marcelis, Carlo and Mercie, Sandra and Molin, Arnaud and Nizon, Mathilde and O'Leary, Melanie and Palomares, Maria and Pfundt, Rolph and Ranguin, Kara and Revencu, Nicole and Rhodes, Lindsay and Santos Simmaro, Fernando and Seaby, Ellie and Sheffer, Ruth and Snijders Blok, Lot and Sorensens, Kristina and Stark, Zornitza and Stoeva, Radka and Stutterd, Chloe and Torring, Pernille and Villavicencio-Lorini, Pablo and Vincent, Marie and Wand, Dorothea and Menten, Björn and Callewaert, Bert and Vergult, Sarah}},
  booktitle    = {{Online Research Day 2021, Abstracts}},
  keywords     = {{ZFHX3,neurodevelopment,intellectual disability}},
  language     = {{eng}},
  location     = {{Ghent, Belgium}},
  title        = {{A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)}},
  year         = {{2021}},
}