The results indicated that BBS2 (28.89%) and BBS7 (15.56%) are the hotspot genes in Chinese patients with BBS, with BBS2: c.534 + 1G > T (10/182 alleles) and BBS7: c.1002delT (7/182 alleles) being the most prevalent variants. Here, BBS2 is linked to Bardet-Biedl syndrome.