BBS4 and Bardet-Biedl syndrome: In assessing the stop‐gain mutation detected on BBS4 gene, which codes for the fourth member of the Bardet‐Biedl syndrome (BBS) gene family (BBS; OMIM 615982) (Ece Solmaz et al., 2015), the variant (rs775710800) is extremely rare located in a semi‐conservative position, with a gnomAD frequency (0.00001), and causes the premature termination of the full‐length protein translation (519 aa).