POLA1 and X-linked reticulate pigmentary disorder: Although severe germline mutations in POLA1 very likely induce embryonic lethality, a combination of classical linkage analysis, targeted next-generation sequencing and whole-exome sequencing identified a unique intronic mutation in the POLA1 gene in several independent families presenting with X-linked reticulate pigmentary disorder (XLPDR, OMIM #301220), a rare syndrome characterized by skin hyperpigmentation, sterile multiorgan inflammation, recurrent infections and distinct facial features [8].