Fig. 2.

Schematic diagram of the EHMT1 gene structure (including 27 exons) and the protein domain structure of the EHMT1 protein. The conserved domains include the C3HC4 type zinc-finger (RING finger) (C3HC4) domain, 7 ankyrin repeat (ANK) domains, the Su(var)3–9, Enhancer-of-zetste, trithorax (SET) domain and the PreSET domain (N-terminal to the SET domain).The relative positions of in total 22 mutations are displayed, including the 13 mutations of the present patient cohort (1 recurrent mutation (p.Arg620X) present in 2 patients) and 9 previously reported mutations. The first identified intragenic EHMT1 aberration due to a translocation X;9 is not shown. del = Deletion; SS = splice site mutation.