EIF2B4 and leukoencephalopathy with vanishing white matter: In this study, we performed targeted gene capture sequencing followed by Sanger sequencing validation in a Chinese family affected by adult-onset VWM and identified a novel heterozygous missense mutation (c.1337G > A [p. R446H]) in EIF2B4, which led to dramatically reduced EIF2B4 protein levels when overexpressed in HEK 293T cells.