BBS1 and Bardet-Biedl syndrome: Similarly, other BBS-associated genes were reported to influence the length of cilia in patient-derived fibroblasts.10, 38 In conclusion, our observations of the hypomorphic nature of the BBS1 c.479G > A mutation provided a molecular explanation for the exceptionally mild phenotype found in the patients studied herein and have implications toward understanding the enormous phenotypic spectrum seen in BBS patients.