In the last few years, our group has identified and validated eight genes causative for leukodystrophy, including POLR3A, POLR3B, POLR1C, POLR3D, EPRS1, VARS1, and ABHD16A [4,14,15,16,17,18,19]. The gene discussed is POLR3A; the disease is leukodystrophy.