Table 1.
ERCC4/XPF intron mutations identified in Japanese XP-F patients
| Subject ID | Sex | First visit | Onset | ERCC4/XPF mutations | Clinical findings | UDS % | Reference | |
|---|---|---|---|---|---|---|---|---|
| Allele1 | Allele2 | |||||||
| XP136KO | F | 44 y | 3 y | intron 1 c.207+196T>A | intron 1 c.207+196T>A | decreased in MED & delayed erythema peak, BCC+, photophobia | 13 | this study |
| XP37NG | M | 35 y | 3 y | intron 1 c.207+196T>A | intron 1 c.207+196T>A | exposed pigmentation and dry skin, skin cancer | 21 | this study |
| XP43NG | F | 50 y | severe sunburn from 5 y abnormal pigmented spots from 16 y | intron 1 c.207+196T>A | intron 1 c.207+196T>A | no skin cancer | 21 | this study |
| XP101OS | F | 49 y | extensive sunburn from childhood | intron 1 c.207+196T>A | intron 1 c.207+196T>A | photophobia from childhood, marked photoaged skin on sun-exposed area, MED 30 mJ/cm2, BCC (47 y, 49 y), KA (49 y) | 31 | Ref. 36 |
| XP97NG | F | 71 y | no history of severe sunburn abnormal pigmented spots from 16 y | intron 1 c.207+196T>A | intron 1 c.207+196T>A | no skin cancer | 18 | this study |
| XP165KO | M | 44 y | severe sunburn from childhood | intron 1 c.207+196T>A | intron 1 c.207+196T>A | decrease in MED (30 mJ/cm2) and delayed erythema peak, multiple BCC (44 y) | 19 | this study |
| XP103NG | F | 48 y | severe sunburn from 5 y abnormal pigmented spots from 30 y | intron 1 c.207+196T>A | intron 1 c.207+196T>A | no skin cancer | 15 | this study |
| XP4NG | M | 64 y | 5 y | intron 1 c.207+196T>A | exon 11 c.2749T>C p.*917Rext*83 | exposed pigmentation and dry skin, decrease in MED (28.0 mJ/cm2) and delayed erythema peak, multiple AK | 7 | Ref. 37 |
| XP48NG | M | 67 y | extensive sunburn and pigmented plaque on the sun-exposed area from early childhood | intron 1 c.207+196T>A | exon 11 c.2749T>C p.*917Rext*83 | multiple BCC and AK (at the first visit) | 3 | this study |
| XP90NG | M | 50 y | severe sunburn from 1 y | intron 1 c.207+196T>A | exon 11 c.2749T>C p.*917Rext*83 | SCC (nose, 49 y), BCC (nose, 49 y) | 6 | this study |
| XP95NG | M | 40 y | severe sunburn from infancy | intron 1 c.207+196T>A | exon 11 c.2749T>C p.*917Rext*83 | no skin cancer | 10 | this study |
| XP18NG | F | 12 y | no history of severe sunburn abnormal pigmented spots from 10 y | intron 1 c.207+196T>A | exon 11 c.2480_2481delCA p.T827Sfs*9 | no skin cancer | 33 | this study |
| XP133KO | F | 24 y | blister formation after sunbathing at 3 mo | intron 1 c.207+196T>A | exon 8 c.1470delGp.K491Sfs*2 | no consanguinity, increase in pigmented maculae from school age childhood, congestion of conjunctiva upon sun exposure | 16 | this study |
| XP23OS | F | 45 y | increase in pigmented maculae from 6 y | intron 1 c.207+196T>A | exon 8 c.1364dupAp.E456Gfs*8 | No evidence of skin cancer | 7 | Ref. 38 |
| XP96NG | F | 71 y | severe sunburn from childhood | intron 1 c.207+196T>A | exon 4 c.767delAp.N256Mfs*29 | SCC (lower lip, 71) decreased MED (25 mJ/cm2) | 11 | this study |
| XP2YO | F | 64 y | extensive sunburn from 2 mo | intron 8 c.1811+326C>T | intron 8 c.1811+326C>T | tiny pigmented maculae on the sun-exposed area, SCC on lower lip (64), die of bile duct carcinoma (65 y) | 4 | Ref. 39 |
| XP3YO | M | 29 y | pigmented plaque on the sun-exposed area from early childhood | intron 8 c.1811+326C>T | intron 8 c.1811+326C>T | grandnephew of XP2YO, keratoacanthoma (26 y) | 9 | Ref. 39 |