From: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
 | Cockayne syndrome | COFS syndrome | Trichothiodystrophy | Xeroderma pigmentosum | UV-sensitive syndrome |
---|---|---|---|---|---|
Growth failure | ++ | ++ | + | - | - |
Microcephaly | ++ | ++ | +/− | +/− | - |
Intellectual disability | ++ | ++ | +/− | +/− | - |
Retinal degeneration | + | +/− | - | - | - |
Cataracts | + | + | + | - | - |
Deafness | + | +/− | +/− | - | - |
Photosensitivity | + | +/− | +/− | ++ | ++ |
Brittle hair | - | - | ++ | - | - |
Cancer | - | - | - | ++ | - |
Known involved genes | ERCC6(CSB) | ERCC6(CSB) | ERCC2(XPD) | XPC | ERCC6(CSB) |
ERCC8(CSA) | ERCC2(XPD) | ERCC3(XPB) | ERCC2(XPD) | ERCC8(CSA) | |
 | ERCC5(XPG) | TTD-A | XPA | UVSSA(KIAA1530) | |
 | ERCC1 | TTDN1 | POLH |  | |
 |  |  | ERCC5(XPG) |  | |
 |  |  | DDB2(XPE) |  | |
 |  |  | ERCC3(XPB) |  | |
 |  |  | ERCC1 |  | |
 |  |  | ERCC4(XPF) |  |