Table 3.
Phenotypic features and other disorders associated with JS genes/loci
| Gene/locus | %* | MTS | Retina | PD | Kidney | Liver | OE | coloboma | Other disorders |
|---|---|---|---|---|---|---|---|---|---|
| RPGRIP1L | 3 | + | +/− | + | ++ | + | + | +/− | MKS |
| NPHP1 | 1 | +/− | +/− | − | ++ | − | − | − | NPH, Cogan OMA |
| CEP290 | ~10 | + | ++ | +/− | ++ | + | + | +/− | MKS, LCA, BBS |
| MKS3 | 9 | + | − | + | + | ++ | + | ++ | MKS |
| AHI1 | 8 | ++ | ++ | − | +/− | − | − | − | − |
| ARL13B | <1 | + | +/− | − | − | − | +/− | − | − |
| CC2D2A | 9 | + | +/− | +/− | + | +/− | +/− | +/− | MKS |
| 9q34 | ? | + | +/− | − | + | − | +/− | − | ? |
| Chr11 | ? | + | − | − | + | − | − | +/− | ? |
| Total | <50 |
MTS=Molar Tooth Sign; OE=Occipital Encephalocele; OMA=OculoMotor Apraxia; PD=Polydactyly; ++ = commonly reported; + = reported in some cases; +/− = infrequently reported; − = not reported.
*
all percentages based on our cohort except for CEP290 (based on the literature)