NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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.

Source: The American Journal of Human Genetics - November 1, 2018 Category: Genetics & Stem Cells Authors: Ina Schanze, Jens Bunt, Jonathan W.C. Lim, Denny Schanze, Ryan J. Dean, Marielle Alders, Patricia Blanchet, Tania Atti é-Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J. Bridges, Megan T. Cho, William B. Dobyns, Dian Donnai, Jessica Tags: Article Source Type: research