IFT54 and normal pressure hydrocephalus: Linkage analysis combined with whole-exome sequencing (WES) in parallel to targeted exome sequencing (‘ciliome')6, 10, 14 conducted in 1,427 individuals with NPH revealed mutations in TRAF3IP1 in eight individuals from five unrelated families (Table 1 and Supplementary Fig. 1a–g and Supplementary Tables 1 and 2).