Research Article
A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy
Table 2
Clinical features of Tunisian XP-V patients.
| | Patients | Affected patients | Sex | Age (years) | Age at onset of the 1st XP macules erythema (years) | Geographic
Origin |
Age at onset of 1st Tumor in years (Number of tumors) | Photophobia | Radiotherapy | Tumor post Radiotherapy | | BCC | SCC | Other tumors |
| | XPV6KE | 1 | M |
47 (died at 50) | 4 | Kef | 22 (6) | 20 (12) | — | +/− | +++ | +++ | | XPV15GA | 1 | F | 18 | 4 | Gafsa | 15 (2) | 16 (2) | | +/− | | | | XPV17-1 B |
3 | F | 17 | 4 |
Bizerte | 0 | 0 | 0 | — | | | | XPV17-2 B | F | 11 | 4 | 0 | 0 | 0 | — | | | | XPV17-3 B | F | 4 | 5 | 0 | 0 | 0 | — | | | | XP18G | 1 | F | 43 | 4 | Gafsa | 16 (8) | 21 (3) | KA | +/− | +++ | +++ | | XPV20G | 3 | F | 31 | 5 | Gafsa | ND (>10) | ND (>2) | | | +++ | + | | XPV43-1 |
7 | M | ND | 5 |
Zaghouan | 38 (8) | 23 (4) |
KA and Actinic Keratosis | +/− | + (local) | — | | XPV43-2 | F | 45? | 5 | 41 (1) | | | +/− | | | | XPV48G | 1 | F | 46 | 6 | Gafsa | 0 | 47 (1) | | +/− | | | | XPV53Z | 1 | M | 50 | 7 | Fahs Zaghouan | 37 (4) | | | | + (local) | +/− | | XPV79-1 | 3 (1died) | F | 13 | 3 | Tozeur/Gafsa | 10 (3) | — | KA++ | +/− | | | | XPV79-2 | F | 18 | 3 | | | KA | — | | | | XPV91-1 | 3 | F | 29 | 6 |
Tozeur | | | Actinic Keratosis | — | | | | XPV91-2 | | F | 21 | 6 | | | | — | | | | XPV91-3 | | F | 24 | 6 | | | | — | | |
|
|
SCC: spino cell carcinoma; BCC: basal cell Carcinoma; KA: kerathoacantum; (+/−) moderate phenotype; (—) absence; (+++) several.
|
