A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

► The BBS patients had obesity, polydactyly, rod cone dystrophy and renal dysplasia. ► Proband had bilateral basal ganglion calcification characteristic of Fahr disease. ► 250k SNP array genotyping was used to obtain the homozygous regions. ► Homozygosity was found at three genes i.e. BBS10, BBS14 and BBS2. ► Novel deletion (p.Ser653I1efx4) in BBS10 was the causative mutation in the patients.