Table 3.
Cellular studies reported (n=58) in trichothiodystrophy patients
| Gene defect | Patients No. (%) |
|---|---|
| Reduced DNA repair | 41 (37) |
| XPD | 32 (29) |
| XPB | 2 (2) |
| TTD-A | 2 (2) |
| TTDN1 | 6 (5) |
| Normal DNA repair; not reported | 11 (10); 54 (48) |
| Total | 112 (100) |
TTD, trichothiodystrophy; XP, xeroderma pigmentosum.