HIKESHI and Leukoencephalopathy: Furthermore, in humans, the homozygous p.Val54Leu or p.Cys4Ser mutation in the Hikeshi/C11orf73 gene causes the expression of unstable Hikeshi proteins, leading to hypomyelinating leukoencephalopathies (Edvardson et al, 2016; Vasilescu et al, 2017).