Molecular characteristics

Mostly missense variants that affect ATP/helicase dependent chromatin remodelling/histone shifting are found in individuals with Snijders Blok-Campeau syndrome (SNIBCPS). Changes in chromatin remodelling capacities of CHD3 may affect gene regulation during development. Especially, the complex development of the brain may be sensitive to minor changes in gene-regulatory mechanisms. We are currently investigating the effect of CHD3 variants in gene-regulatory processes and chromatin remodelling.