Table 1.
Nine probands with known mutations.
| Proband | Disease | Gene | Mutation | Validation |
|---|---|---|---|---|
| P1 | Dent Disease 1 | CLCN5 | c.778_798delACTCTG GTTATCAAAACCATC |
Sanger |
| P2 | X-Linked Ichthyosis | STS | Whole gene deletion | QPCR |
| P3 | Mucolipidosis II/III Alpha&Beta | GNPTAB | c.1090 C > T; c.2404 C > T | Sanger |
| P4 | Charcot-Marie-Tooth disease | PMP22 | c.215 C > T | Sanger |
| P5 | Polycystic kidney disease 1 | PKD1 | c.8835 C > G | Sanger |
| P6 | Duchenne/Becker Muscular Dystrophy | DMD | CDS 10–12 deletion | QPCR |
| P7 | Nephrotic Syndrome Type 2 | NPHS2 | c.593 A > C; c.538 G > A | Sanger |
| P8 | Pseudohypoaldosteronism Type IB | SCNN1B | c.1853C > G | Sanger |
| P9 | Charcot-Marie-Tooth disease | PMP22 | Whole gene duplication | QPCR |