BBS5 and Bardet-Biedl syndrome: The targetted exome sequencing (TES) analysis of the proband (pedigree II:2 is depicted in Figure 1 and Supplementary Table S1), associated with BBS, resulted in the identification of a novel, splicing site variant 208+2T>C in BBS5 (NM_152384.2) in this Iranian BBS family [26].