Table 1 of
Liang, Mol Vis 2013; 19:1885-1891. Table 1 of
Liang, Mol Vis 2013; 19:1885-1891.
Table 1. Clinical information and phenotype of 7 patients.
| Variables | Patient 1 | Patient 2 | Patient 3 | Patient 4 and 5 | Patient 6 and 7 |
|---|---|---|---|---|---|
| Mutant allele 1 | c.9448 ins A p.N3150Kfs2X | c.11015 del A p.N3672I fs11X | c.7436C>G p.S2479X | c.2084C>A p.S695X | c.2064delT p.H688HfsX |
| Mutant allele 2 | c.9460 del G p.V3154Xfs | c.11107C>T P.R3703X | c.10883insG p.R3611Efs7X | c.2084C>A p.S695X | c.9441_9442insAATA p.Q3147Qfs2X |
| Mutant exon | 10 | 16 | 8 and 16 | 8 | 8 and 10 |
| Gender | female | female | male | male | female |
| Age (year) | 14 | 13 | 5 | 13 | 7 |
| BMI (kg/m2) | 24 | 26.7 | 24 | 24.3 | 25.1 |
| BCVA | LP | 20/200 | CF | 20/200 and 10/200 | 10/200 |
| Cone rod dystrophy | Y | Y | Y | Y | Y |
| T2DM | Y | Y | N | Y | N |
| SNHL | Y | Y | N | N | N |
| Hepatic dysfunction | Y | N | Y | Y | Y |
| Renal dysfunction | Y | Y | N | Y | Y |
| Hypothyoid dysfunction | Y | N | N | N | N |
| Hypogonadism | N | N | Y | N | N |
| Acanthosis nigricans | Y | Y | N | Y | N |
| Mental retardation | Y | Y | Y | N | N |
| Scoliosis | Y | N | N | N | N |
| Epilepsy | Y | N | N | N | N |