BBS4 and retinitis pigmentosa 1: Among the identified variants, c.563delT(p.I188Tfs∗13), c.944G > A(p.R315Q), and c.1015C > T(p.R339∗) in the BBS2 gene (Katsanis et al., 2001; Xing et al., 2014; Shaheen et al., 2016), c.728G > A(p.C243Y) and c.1002delT(p.N335Ifs∗47) in the BBS7 gene (Chen et al., 2013; Wang et al., 2013) have been reported to be related to RP or BBS, while the rest of the 12 variants in the four genes were never been reported in ClinVar or HGMD Professional, so they were considered novel (BBS2, 41.67%; BBS4, 16.67%; BBS7, 8.33%; and BBS9, 33.33%).