Figure 5.

(a) Heterozygous SETD2 deletion by OGM. The green bar displays the reference map, the blue/turquois bar the map of patient 6. The distance between the labels at positions 47,126,654 and 47,132,458 in the reference was 5.8 kb, whereas in the patient the distance was 3.5 kb, thus indicating a 2.3 kb deletion. (b) Validation of the SETD2 deletion via PCR. In the wild type, one band at 6.8 kb was observed, while in the patient sample an additional band at 4.5 kb containing the deletion was present. NTC: no template control.