Mechanistic studies on a congenital hydrocephalus causing mutation in Trim71

Congenital hydrocephalus is a major cause of childhood morbidity. Mutations in Trim71, a conserved stem-cell-specific RNA-binding protein, cause this disease, however, the molecular basis for pathogenesis mediated by these mutations remains unknown. Here, we plan to address this knowledge gap by determining the molecular mechanisms by which a disease-causing mutation in Trim71 leads to congenital hydrocephalus.