Authors
Ina Schanze, Jens Bunt, Jonathan WC Lim, Denny Schanze, Ryan J Dean, Marielle Alders, Patricia Blanchet, Tania Attié-Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J Bridges, Megan T Cho, William B Dobyns, Dian Donnai, Jessica Douglas, Dawn L Earl, Timothy J Edwards, Laurence Faivre, Brieana Fregeau, David Genevieve, Marion Gérard, Vincent Gatinois, Muriel Holder-Espinasse, Samuel F Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda M Mirzaa, Sian M Morgan, Catherine Nowak, Hilde Peeters, Florence Petit, Daniela T Pilz, Jacques Puechberty, Eyal Reinstein, Jean-Baptiste Rivière, Avni B Santani, Anouck Schneider, Elliott H Sherr, Constance Smith-Hicks, Ilse Wieland, Elaine Zackai, Xiaonan Zhao, Richard M Gronostajski, Martin Zenker, Linda J Richards
Publication date
2018/11/1
Journal
The American Journal of Human Genetics
Volume
103
Issue
5
Pages
752-768
Publisher
Elsevier
Description
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations creating a premature termination codon, and three subjects harbored single-nucleotide variations resulting in an inactive protein as determined using an in vitro reporter assay. All individuals presented with additional variable …
Scholar articles
I Schanze, J Bunt, JWC Lim, D Schanze, RJ Dean… - The American Journal of Human Genetics, 2018