The MD/PD-specific genes included TMEM51 and GRHL2 previously identified in the analysis of the whole 40 exomes but also identified additional MD/PD-specific genes ZZEF1, GMDS, NEDD4L, LRP1, PRB1, HECTD4, SOS2, ICAM1, VWF, ACVR2A, POLH, CNDP2, RPLP1 and PRMT3. Their significance has yet to be described in cSCC although non-silent mutations in some of these genes have been observed in cSCC10 (Supplementary Data 23). The gene discussed is LRP1; the disease is Menkes disease.