We retrieved all the variants from the 91 Chinese BBS patients and identified 96 variants in 13 BBS genes (BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS9, BBS10, BBS12, BBS13, BBS16, CEP290) (Fig. 5, Supplementary Table S3). The gene discussed is MKKS; the disease is Bardet-Biedl syndrome.