Mutations in six IFT genes (IFT43, IFT52, IFT122, IFT140, WDR19/IFT144, and WDR35/IFT121) have been identified in 66% of patients with CED, but the remaining 34% of patients are still unsolved genetically [1, 2, 5, 6, 22, 23]. The gene discussed is IFT122; the disease is cranioectodermal dysplasia.