Identification of RAB34 as a new ciliopathy gene

A collaborative project leads to identification of RAB34 as a causative gene for a new OFD-type ciliopathy, now published in Human Molecular Genetics. Consistent with our prior finding that Rab34 has context-specific roles in cilium assembly, we find a distinct set of ciliopathy phenotypes resulting from pathogenic RAB34 variants. These variants cluster near the Rab34 C-term and fail to support ciliogenesis.