Figure 2

Microduplication within EHMT1 gene results in KS. (a) aCGH identified a 145 kb duplication (greenish shaded; enlarged on the right side of Figure 2a) within the EHMT1 gene (arrow) on chromosome 9q34.4. Log 2 ratio data for two dye-swap plots (patient/control) are presented according to their positions in the human genome. The light blue shaded region with blue and red dots indicates the moving average. Chr.9: chromosome 9. (b) Schematic overview of the two possible cDNA transcripts of EHMT1 gene in our patient that seemed most likely. Black: normal EHMT1 gene transcript. Red: duplicated region of EHMT1 in our patient. ex: exon. A: indicates a possible PCR product (exon 10 of the duplicated region adjacent to exon 2 of the normal EHMT1 transcript). B: indicates a possible PCR product (exon 2 of the duplicated region adjacent to exon 11 of normal coding EHTM1 transcript). (c) Agarose gel electrophoresis of possible PCR products A and B (see Figure 2b) in our patient (first and second lane) and a control person (third and forth lane). A PCR product was only seen for A in our patient. It showed the expected size of ~190 bp of PCR product A according to the 1 kb Plus DNA Ladder (Invitrogen, Carlsbad, CA). (d) Sequence analysis of PCR product A (Figure 2c) and comparison with the normal coding transcript of EHTM1 gene revealed a frameshift in the coding sequence leading to a premature stop codon (green box) in EHMT1 in our patient. Exon 10 adjacent to exon 2 of the forward strand of EHMT1 coding sequence in our patient is shown. Grey shaded boxes: localization of the constructed forward (fw) and reverse (rv) primers, respectively. Black: coding sequence of exon 10 of EHMT1. Red: coding sequence of exon 2 of EHMT1.