In addition, cells from patients presenting the combined CS symptoms (XP/CS patients with mutation in XPD (XP8BR, XPSC235) and XPG (GM0361636, VL8, AS634) showed a severe down-regulation of the three marker genes, similar to the VL8 and AS634 cell lines. The gene discussed is ERCC5; the disease is xeroderma pigmentosum.