Remarkably, point mutations in the TSK gene were found in hydrocephalus patients, which abolish both TSK binding to Wnt receptors and its function in the context of LV development, since a TSK variant carrying hydrocephalus-related mutations, unlike wild-type TSK, was not able to prevent hydrocephalus when expressed in ependymal cells or injected in the LV of TSK-deficient mice (Ito et al., 2021). Here, TSKU is linked to Hydrocephalus.