Shared and unique consequences of Joubert Syndrome gene dysfunction on the development of the central nervous system in zebrafish

Joubert Syndrome (JBTS), characterized by neurodevelopmental ciliopathy and specific midbrain-hindbrain malformations, exhibits genetic heterogeneity with over 40 causative genes implicated in primary cilium function. This study involves a transcriptomic analysis of six zebrafish ciliopathy mutants at 3days post fertilization. Our investigation aimed to discern shared and unique transcriptional alterations associated with distinct genetic factors, and a in-depth phenotypic profiling of the brain of the mutants.