SUZ12 and EED mutations are highly conserved. (A) Chromosome 17 copy number analyzer for GeneChip (CNAG) output for case E7168 indicating homozygous SNP calls (blue rectangle) with a copy number of 2 (blue line) and allele-specific copy number calls (red and green lines). (B) Conservation of residues in the VEFS-box domain. Residues in red correspond to the mutations found. (C) Electropherograms showing the 4 SUZ12 mutations. (D) EED conservation and mutation in patient E1880.