Table 1.
Disease | Affected DNA repair pathway | Gene(s) mutated |
---|---|---|
Xeroderma Pigmentosa | Nucleotide excision repair | XP(A-G) |
Cockayne syndrome | Nucleotide excision repair | CSA & CSB |
Trichothiodystrophy | Nucleotide excision repair | Various XP and CS related |
Werner syndrome | DSB repair homologous Rec. | WRN (a RECQ family member) |
Rothmund–Thomson syndrome | DSB repair homologous Rec. | RECQ4 |
Bloom | DSB repair homologous Rec. | BLM (a RECQ family member) |
Ataxia Telangiectasia | Global DSB repair | ATM (a PI3K) |