Two de novo variants in the BAZ2B gene (a loss-of-function variant and a damaging missense variant) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. A second loss-of-function (LoF) variant in BAZ2B was identified in a patient presenting with ASD, moderate intellectual disability, and macrocephaly in Bowling et al., 2017. A third LoF variant in this gene was identified as a mosaic mutation in another ASD proband from the Simons Simplex Collection in Krupp et al., 2017. Scott et al., 2020 identified seven individuals with heterozygous deletions, nonsense, or de novo missense variants affecting BAZ2B, all of whom presented with developmental delay, intellectual disability, and/or ASD; most of these individuals also presented with dysmorphic features and/or congenital anomalies.
Molecular Function
This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
