Therefore, while our previous results provided important functional information to understand CCDC28B biological role, they also led us to hypothesize that null mutations in CCDC28B could be sufficient to cause a ciliopathy such as BBS, or even the more severe Meckel-Gruber syndrome (MKS), two conditions with a high degree of genetic overlap [25, 40]. The gene discussed is CCDC28B; the disease is ciliopathy.