Table 1 Clinical and molecular manifestations of the 40 studied Moroccan Xeroderma pigmentosum patients
P | Sex | Age (Y) | Age of onset (Y) | Age at examination (Y) | Consanguinity | Skin lesions | Ocular lesions | Mutations | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Photosensitivity | Xerosis | Poikilotherma | Lentigine | warts | Keratoacanthoma | Actinic keratosis | Photophobia | Conjunctivitis | Ectropion | XPC | XPA | ||||||
XP1 | M | 10 | 2 | 3 | 2nd | + | + | + | + | + | + | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP2 | F | 12 | 1,5 | 2 | 1st | + | + | + | + | + | + | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP3 | F | 28 | 8 | 14 | 1st | + | + | + | − | − | − | − | + | − | − | C.1496 C>T Heterozygous | c.682C>T Homozygous |
XP4 | M | 22 | 2 | 9 | 2nd | + | + | + | + | + | + | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP5 | M | 20 | 0,75 | 1 | 1st | + | + | + | − | − | − | − | + | − | − | – | c.682C>T Homozygous |
XP6 | M | 13 | 0,66 | 1.5 | − | + | + | + | + | + | + | + | + | + | + | c.1643-1644delTG Homozygous | – |
XP7 | F | 44 | 4,5 | 16 | 1st | + | + | + | + | − | − | − | + | + | − | C.1496 C>T Homozygous | – |
XP8 | M | 8 | 1 | 2 | 2nd | + | + | + | + | + | − | + | + | − | − | c.1643-1644delTG Homozygous | – |
XP9 | F | 66 | 20 | 32 | 1st | + | + | + | − | + | − | + | + | − | + | c.1643-1644delTG Heterozygous | – |
XP10 | F | 13 | 1 | 4 | 1st | + | + | + | + | + | − | + | + | + | + | c.1643-1644delTG Homozygous | – |
XP11 | M | 11 | 1,58 | 3 | 2nd | + | + | + | + | + | + | − | + | − | − | c.1643-1644delTG Homozygous | – |
XP12 | M | 17 | 12 | 15 | 1st | + | + | + | + | − | − | − | + | − | − | C.1496 C>T Homozygous | – |
XP13 | F | 8 | 2 | 6 | 1st | + | + | + | + | + | + | + | + | − | − | c.1643-1644delTG Homozygous | – |
XP14 | F | 15 | 2 | 13 | 1st | + | + | + | + | − | − | + | + | − | − | c.1643-1644delTG Homozygous | – |
XP15 | F | 9 | 0,75 | 2 | 1st | + | + | + | + | + | + | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP16 | F | 26 | 14 | 15 | 1st | + | + | + | + | + | − | + | + | − | − | - | – |
XP17 | M | 5 | 1 | 2 | 1st | + | + | + | + | − | − | − | + | − | − | c.1643-1644delTG Homozygous | – |
XP18 | M | 19 | 0,16 | 4 | 1st | + | + | + | − | + | − | − | + | + | − | C.1496 C>T Heterozygous | c.682C>T Homozygous |
XP19 | F | 12 | 0,25 | 2 | 1st | + | + | + | + | − | − | + | + | − | − | C.1496 C>T Heterozygous | c.682C>T Homozygous |
XP20 | F | 24 | 0,5 | 14 | – | + | + | + | + | + | − | − | + | − | − | – | c.682C>T Homozygous |
XP21 | F | 22 | 2 | 5 | 2nd | + | + | + | + | − | + | − | + | − | − | C.1496 C>T Homozygous | – |
XP22 | F | 19 | 2 | 10 | – | + | + | + | + | + | + | + | + | − | + | c.1643-1644delTG Homozygous | – |
XP23 | F | 29 | 18 | 27 | 1st | + | + | + | − | + | − | − | + | + | − | C.1496 C > T Heterozygous | – |
XP24 | F | 33 | 0,5 | 3 | – | + | + | + | − | + | − | − | + | − | + | – | c.682C>T Homozygous |
XP25 | F | 31 | 0,16 | 1 | – | + | + | + | − | + | − | + | + | − | − | – | c.682C>T Homozygous |
XP26 | M | 24 | 5 | 12 | 1st | + | + | + | + | − | − | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP27 | M | 5 | 1,5 | 3 | 2nd | + | + | + | + | + | − | − | + | − | − | c.1643-1644delTG Homozygous | – |
XP28 | M | 10 | 1,5 | 5 | 2nd | + | + | + | + | + | − | − | + | − | + | c.1643-1644delTG Homozygous | – |
XP29 | M | 28 | 4 | 21 | 1st | + | + | + | + | + | − | + | + | + | − | c.1643-1644delTG Homozygous | – |
XP30 | F | 28 | 1 | 17 | 1st | + | + | + | − | − | − | − | + | − | − | – | c.682C>T Homozygous |
XP31 | M | 11 | 3 | 8 | – | + | + | + | − | + | − | + | + | − | − | – | c.682C>T Homozygous |
XP32 | M | 17 | 0,75 | 4 | – | + | + | + | − | + | + | + | + | − | − | – | – |
XP33 | F | 4 | 1 | 4 | 1st | + | + | + | − | − | − | − | + | − | − | c.1643-1644delTG Homozygous | – |
XP34 | F | 46 | 22 | 33 | – | + | + | + | + | − | − | + | + | − | − | C.1496 C>T Heterozygous | – |
XP35 | M | 20 | 5 | 17 | 1st | + | + | + | − | + | − | + | + | − | − | – | – |
XP36 | F | 5 | 2,5 | 3 | 2nd | + | + | + | − | + | − | − | + | − | + | c.1643-1644delTG Homozygous | – |
XP37 | M | 18 | 6 | 13 | – | + | + | + | + | − | − | + | + | − | − | c.1643-1644delTG Homozygous | – |
XP38 | M | 16 | 2 | 2 | – | + | + | + | − | − | − | − | + | + | − | - | – |
XP39 | M | 3 | 1 | 2 | 2nd | + | + | + | − | + | − | − | + | − | − | c.1643-1644delTG Homozygous | – |
XP40 | M | 54 | 14 | 28 | 2nd | + | + | + | − | − | − | + | + | + | − | – | – |