NEK8 and normal pressure hydrocephalus: To date, only two recessive human NEK8 mutations had been reported, one missense mutation in the RCC1 domain in a patient with early onset NPH and one nonsense mutation in the same domain in three fetuses from a consanguineous family with Ivemark I/II syndromes including cystic dysplastic lesions occurring in kidneys, liver and pancreas, and heart and skeletal defects [5, 6].