Fig. 7

Deletion breakpoints of the mutant allele from patient #13. The deleted sequence is shown in lower case letters. The upstream breakpoint (relative to the orientation of the EXT1 gene) occurs at position 117,814,822 of the EXT1 gene, the downstream breakpoint at position 117,810,504. Since the deletion breakpoints contain a microrepeat of 2 nucleotides (GA), the breakpoints are slightly ambiguous. Note that the EXT1 gene is located on the lower strand of chromosome 8 at region 8p24. Close to the breakpoints, three copies of the deletion hotspot consensus sequence TGRRKM are found (highlighted in red)