Find in Library

The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt–β-catenin signaling pathway regulation. Mutations in the RNA-binding domain of Trim71 can cause congenital hydrocephalus (CH). This Primer explores a recent study in PLOS Biology which shows that two known CH-associated Trim71 mutations lead to distinct ectopic RNA binding; these gain-of-function mechanisms influence neurogenesis in vitro and may contribute to CH pathology.