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. 2020 Feb 4;130(3):1431–1445. doi: 10.1172/JCI131145

Figure 7. KAT8 variants, clinical features, and photographs of 9 different individuals.

Figure 7

(A) Exon-intron structure of KAT8 and the location of its variants identified in 9 individuals. All except individual T9 carry heterozygous de novo variants. Individuals T1, T2, and T3 are not related but share a recurrent variant. All except c.523A>T are missense variants. c.523A>T is a nonsense variant and converts codon 176 to a termination one. The regions encoding the chromobarrel and acetyltransferase domains of KAT8 are labeled with horizontal bars. (B) Heatmap comparing major clinical features in the 9 individuals. See Supplemental Table 1 for more detailed clinical information. (C) Photographs of 4 individuals. See Supplemental Figures 8 and 9 for photographs of individual T3 and MRI images of individuals T3, T6, T7, and T9.