BBS10 and Bardet-Biedl syndrome: About 100 different disease-causing changes have been reported elsewhere (Human Gene Mutation Database; Stenson et al., 2017), of which the p.Cys91Leufs*5 allele represents a recurrent deleterious variant in BBS cohorts of European descent, reaching 26–48% of BBS10 mutational load (Stoetzel et al., 2006; Billingsley et al., 2010; Muller et al., 2010).