In conclusion we describe a consanguineous Saudi Arabian family with clinical features of BBS, together with a novel mutation in BBS5. Modelling this disease in zebrafish mimics the human disease, and pathogenicity of the novel BBS5 mutation is demonstrated by the inability of mutant mRNA to rescue morphant zebrafish phenotype as well as mislocalisation of mutant BBS5 protein in renal epithelial cells. Here, BBS5 is linked to Bardet-Biedl syndrome.