Research Article
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing
Table 3
The characteristics of 8 patients carrying the nine novel mutations.
| | Subject | Gene | Age at detection | Gender | Eye | Keratoplasty | Central thinnest corneal thickness (OD/OS, μm) |
| | 1 | FNDC3B
COL4A4 | 24 | Female | OU | No | 464/459 | | 2 | IPO5 | 17 | Male | OU | No | 457/479 | | 3 | MPDZ | 21 | Male | OU | No | 405/370 | | 4 | POLG | 23 | Male | OU | No | 459/458 | | 5 | MPDZ | 16 | Female | OU | No | 426/456 | | 6 | MPDZ | 32 | Male | OU | No | 532/518 | | 7 | DOCK9
ZNF469 | 17 | Male | OU | No | 414/386 | | 8 | TGFBI | 24 | Male | OU | No | 502/506 |
|
|
