CHROMATINOPATHIES (Page 26)

; [What are chromatinopathies?]

Neurodevelopmental disorders (NDDs) arising from mutations in genes at each level of chromatin organization – including writers, readers, erasers of epigenetic marks, chromatin remodelers, and proteins involved in chromatin organization.

; [What are the classes of chromatin regulatory proteins?]

1. Writers, readers, and erasers of DNA methylation and histone post-translational modifications
   2. Chromatin remodelers (slide/eject nucleosomes or exchange histone variants)
   3. Proteins involved in chromatin organization providing higher-order organization in TADs

; [How are these diseases named?]

Based on the gene mutated in each disorder (EZH2 = Weaver syndrome, ASXL1 = Bohring-Opitz syndrome, etc.)

; [What is the prevalence of chromatin regulator mutations in these syndromes?]

The prevalence is due to their specific functions in controlling cell fate decisions.

; [What is a specific histone mutation example mentioned?]

A syndrome characterised by mutations in a H3 coding gene itself – H3G34 mutation (Khazei et al, 2023, Cell).

; [How many chromatinopathies have been reported to date?]

Over 100 chromatinopathies reported to date.