Patients P1* P2* P3 P4* Age 40 32 24 10 Sex female male male male Retinal degeneration yes yes yes yes Obesity yes no no yes Childhood obesity yes yes yes yes Polydactyly yes yes yes no Learning disabilities yes no yes yes Genotype c.641T>A/c.641T>A c.1169T>G/c.1169T>G c.1169T>G/c.1642delC c.664G>C/c.664G>C Gene and mutation effect BBS10,p.V214E BBS1, p.M390R BBS1, p.M390R and p.L548Wfs*31 BBS1, p.G222R

Table 1: Clinical and genetic features of BBS patients *Consanguineous parents; in bold, new mutations *The GFR has been estimated using CKD-EPI and Schwarts formulae in adults and children respectively.