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). The gene discussed is BBS5; the disease is Bardet-Biedl syndrome.