POLR3A and leukodystrophy: The distributions of mutation pattern around world are very variable, such as the intronic c.1909 + 22G>A variant in POLR3A is mainly distributed in Europe[6] and only several POLR3A related leukodystrophy were reported in China.[7–9] The mutations of our patients were not reported previously and described in the Genome Aggregation Database with an allele frequency of 0.000032% for c.1615G>T (rs1171962004) and 0.00008% for c.165-167del (rs745721628) only in Asian (www.ncbi.nlm.nih.gov/snp/).