Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

Abstract excerpt

Objective To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH. Methods We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified a candidate gene. Then we generated knockout mouse using CRISPR/Cas9 to confirm the effect of the candidate gene on the pathogenesis of hydrocephalus. Results In WES,...