BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
Year: 2020
Type: article
Abstract: The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical development between BAZ2B and genes known to cause autism spectrum disorder (ASD) and neurodevelopmental disorder. We also found an excess of de novo BAZ2B loss-of-function variants in exome sequencing data from previously published cohorts of individuals with neurodevelopmental disorders. We subsequently identified seven additional individuals with heterozygous deletions, stop-gain, or de novo missense variants affecting BAZ2B. All of these individuals have developmental delay (DD), intellectual disability (ID), and/or ASD. Taken together, our findings suggest that haploinsufficiency of BAZ2B causes a neurodevelopmental disorder, whose cardinal features include DD, ID, and ASD.
Source: Human Mutation
DOI: 10.1002/humu.23992
Authors: Tiana M. Scott, Hui Guo, Evan E. Eichler, Jill A. Rosenfeld, Kaifang Pang, Zhandong Liu, Seema Lalani, Weimin Bi, Yaping Yang, Carlos A. Bacino, Haley Streff, Andrea M. Lewis, Mary K. Koenig, Isabelle Thiffault, Allison Bellomo, David B. Everman, Julie R. Jones, Roger E. Stevenson, Raphael Bernier, Christian Gilissen, Rolph Pfundt, Susan M. Hiatt, Gregory M. Cooper, Jimmy L. Holder, Daryl A. Scott
Institutions: Brigham Young University, Central South University, University of Washington, Howard Hughes Medical Institute, Baylor College of Medicine, Texas Children's Hospital, Baylor Genetics, The University of Texas Health Science Center at Houston, Children's Mercy Hospital, University of Missouri–Kansas City, Greenwood Genetic Center, Radboud University Nijmegen, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, HudsonAlpha Institute for Biotechnology
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W3003723200