Figure 1.

Schematic representation of the spectrum of KAT6B variants identified in this study. All coding exons are shown in purple. Arrows point to the exonic location of the variants identified. Key: frameshift variants, in-frame deletion, missense variant, synonymous variant, nonsense variants. Variants identified in other studies are in italics. The protein structure shows the protein domains. NEMM: highly conserved N-terminal domain with a role in transcriptional repression. PHD: zinc finger domain, MYST: responsible for histone acetyltransferase activity.