Table 1. Identified Mutations in BBS Genes.
| Family | Subject | Phenotype | Gene | Mutation | Type | Amino acid | Reported |
| WZ036 | II:2(Proband) | + | BBS2 | c.563delT | homo | p.I188fs,200X | Novel |
| I:1(Father) | – | BBS2 | c.563delT | hetero | p.I188fs,200X | Novel | |
| WZ039 | II:3(Proband) | + | BBS2 | c.1438C>T | homo | p.R480X | Novel |
| I:1(Father) | – | BBS2 | c.1438C>T | hetero | p.R480X | Novel | |
| I:2(Mother) | – | BBS2 | c.1438C>T | hetero | p.R480X | Novel | |
| WZ200 | II:2(Proband) | + | MKKS | c.1496G>A | homo | p.C499Y | Novel |
| I:1(Father) | – | MKKS | c.1496G>A | hetero | p.C499Y | Novel | |
| FJ042 | II:6(Proband) | + | ARL6 | c.364C>T | homo | p.R122X | Reported |
| RP467 | II:1(Proband) | + | MKS1 | c.1382A>G | hetero | p.Y461C | Novel |
| MKS1 | c.1601G>A | hetero | p.R534Q | Novel |