Based on this previous background, we aimed to analyse here several variants in BBS2 (MIM *606151), ARL6/BBS3 (MIM *608845), BBS4 (MIM *600374) and ALMS1 (MIM *606844) genes found in clinically diagnosed patients with BBS, which were predicted to alter the normal splicing process. Here, ARL6 is linked to Bardet-Biedl syndrome.