A recent study of BBS cases also found that 40% (6 out of 15) of the CNV deletions detected in their cohort (in BBS1, BBS4, BBS5, and IFT74) were mediated by Alu–Alu recombination (Lindstrand et al., 2016). This evidence concerns the gene IFT74 and Bardet-Biedl syndrome.