Fig. 1
De novo pathogenic variants in CHD3, SETD1A and WDR5. a Sanger validation of de novo pathogenic variants in family 01, 04 and 07. b Conservation of the mutated amino acids across species. Blue boxes mark the mutated amino acid. The blue line indicates the site of the duplication. c Schematic representation of CHD3 (ENST00000380358) organization, with CHD C- and N-terminal domains in black, plant homeodomain (PHD) zinc finger domains in blue, chromatin organization modifier (CHROMO) domains in green, DEAD-like helicases superfamily (DEXDc) domain in yellow, a helicase superfamily c-terminal (HELICc) domain in red and two domains of unknown function (DUF) in gray. Blue line indicates site of the p.R1228W variant. d Schematic representation of SETD1A (ENST00000262519) protein, with an RNA recognition motif (RRM) in red, a complex proteins associated with Set1p (COMPASS) component N (N-SET) domain in yellow, a Su(var)3–9, Enhancer-of-zeste, Trithorax (SET) domain in green and a post-SET domain in blue. Blue line indicates site of the frameshift, and the blue shaded area indicates the deleted part of the protein. e Schematic representation of WDR5 (ENST00000358625), with WD40 repeats in green. Blue line indicates site of the p.T208M variant
