De novo missense variants in the CHD9 gene have been identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Lim et al., 2017; Satterstrom et al., 2020), as well as in a patient from a cohort of 87 families with neurodevelopmental disorders who presented with ASD and no speech development (Alvarez-Mora et al., 2022). Targeted sequencing of 136 microcephaly or macrocephaly-related genes and 158 possible ASD risk genes in 536 Chinese ASD probands from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Li et al., 2017 identified additional missense variants in the CHD9 gene.
Molecular Function
Predicted to enable ATP binding activity; ATP-dependent activity, acting on DNA; and DNA binding activity. Predicted to be involved in DNA duplex unwinding and chromatin organization. Located in cytosol and nucleoplasm.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
