Mutations of Glis2/NPHP7 are a rare cause for nephronophthisis (NPH), an autosomal recessive disease associated with end-stage renal disease and variable extrarenal manifestations; so far, only two families with Glis2/NPHP7 mutations and typical NPH manifestations have been identified [8]. Here, GLIS2 is linked to normal pressure hydrocephalus.