A de novo damaging missense variant and a de novo frameshift variant in the CHD1 gene have been identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection (Neale et al., 2012; Iossifov et al., 2014). Pilarowski et al., 2017 described six patients with heterozygous CHD1 missense variants; two of these patients were diagnosed with autism.
Molecular Function
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template.ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
