Table 1.
Diseases related to impaired UV DNA damage repair or tolerance and their molecular basis.
| Complementation group | Mutated gene | Clinical disorders
|
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Xeroderma pigmentosum (XP)b | XP with neurological abnormalities | XP/TTD | Tricho- thiodystrophy (TTD) | XP/CS | COFSc syndrome | COFS/TTD | CS/TTD | XFE progeroid syndromed | Cockayne syndrome (CS) | UV-sensitive syndrome | ||
| XP-A | XPAa | ✓ | ✓ | |||||||||
| XP-B | XPB/ERCC3a | ✓ | ✓ | ✓ | ||||||||
| XP-C | XPCa | ✓ | ||||||||||
| XP-D | XPD/ERCC2a | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
| XP-E | XPE/DDB2a | ✓ | ||||||||||
| XP-F | XPF/ERCC4a | ✓ | ✓ | ✓ | ||||||||
| XP-G | XPG/ERCC5a | ✓ | ✓ | ✓ | ||||||||
| TTD-A | TTDA/GTF2H5a | ✓ | ||||||||||
| ERCC1 | ERCC1a | ✓ | ||||||||||
| CS-A | CSA/ERCC8a | ✓ | ✓ | |||||||||
| CS-B | CSB/ERCC6a | ✓ | ✓ | ✓ | ||||||||
| XP VARIANT | XPV/POLη | ✓ | ||||||||||
| TTD-N1 | TTD-N1/C7orf11 | ✓ | ||||||||||
a
Mutations cause a nucleotide excision repair defect.
b
XP without neurological involvement.
c
Cerebro-ocular-facial-skeletal syndrome.
d
Accelerated aging of multiple organ systems.