Table 1.
XP-A, XP-B, and XP-C patients
| XP ID no | Group | Age (y) | Age XP diagnosis (y) | Ethnicity | UDS* | Allele 1 | Protein change | Allele 2† | Protein change | SSS | Age first cancer (y) | Type first cancer | No. MM | No. NMSC | Ocular severity score (maxiumum 12) | Neuro severity score (maximum 8) |
| XP111BR | A | 8 | 5 | Bangladeshi | 3 | c.253C > T | p.Gln85X | 3 | — | 0 | 0 | 2 | 3/5‡ | |||
| XP54PV | A | 8 | 7 | Pakistani | ND | c.648_649delGA | p.Lys217fs | 3 | 8 | SCC | 0 | 2 | 3 | 4/5‡ | ||
| XP57BR | A | 15 | 4 | BangladeshI | 1 | c.640dupA | p.Met214fs | 1 | — | 0 | 0 | 2 | 4 | |||
| XP80BR | A | 15 | 8 | Somalian | 2 | c.314G > A | p.Cys105Tyr | 3 | — | 0 | 0 | 3 | 4 | |||
| XP81BR | A | 19 | 12 | Somalian | 5 | c.314G > A | p.Cys105Tyr | 1 | — | 0 | 0 | 3 | 5 | |||
| XP15BR | A | 23 | <1 | Caucasian | 0 | c.266_267dupAA | p.Val90fs | 3 | — | 0 | 0 | 1 | 5 | |||
| XP114BR | A | 24 | 22 | Pakistani | 8 | c.682C > T | p.Arg228X | 3 | — | 0 | 0 | 6 | 5 | |||
| XP20BR | A | 33 | 13 | Pakistani | 8 | c.682C > T | p.Arg228X | 3 | — | 0 | 0 | 6 | 8 | |||
| XP9BI | A | 7 | 6 | Pakistani | ND | c.555+8A > G | 0 | — | 0 | 0 | 1 | 0 | ||||
| XP103BR | A | 8 | 4 | Pakistani | 20 | c.555+8A > G | 0 | — | 0 | 0 | 1 | 0 | ||||
| XP53BR | A | 19 | 7 | Pakistani | 3 | c.555+8A > G | 1 | — | 0 | 0 | 2 | 0 | ||||
| XP116BR | A | 31 | 31 | Indian Asian | 12 | c.555+8A > G | 1 | 30 | BCC | 0 | 7 | 4 | 0 | |||
| XP2PR | A | 34 | 33 | Pakistani | ND | c.555+8A > G | 1 | — | 0 | 0 | 1 | 0 | ||||
| XP89BR-S | A | 35 | 34 | Pakistani | ND | c.555+8A > G | 2 | — | 0 | 0 | 2 | 0 | ||||
| XP1PR | A | 36 | 35 | Pakistani | ND | c.555+8A > G | 2 | — | 0 | 0 | 3 | 0 | ||||
| XP88BR | A | 37 | 31 | Pakistani | 15 | c.555+8A > G | 3 | — | 0 | 0 | 2 | 0 | ||||
| XP89BR | A | 44 | 39 | Pakistani | 5 | c.555+8A > G | 3 | — | 0 | 0 | 2 | 0 | ||||
| XP1CB | A | 80 | 67 | Indian Asian | 13 | c.555+8A > G | 0 | 46 | MIS | 10 | 35 | 3 | 0 | |||
| XP84BR | B | 35 | 28 | Caucasian | 14 | c.296T > C | p.Phe99Ser | 3 | — | 0 | 0 | 3 | 1 | |||
| XP1SA | B | Died55 | 45 | Mixed | 21 | c.296T > C | p.Phe99Ser | c.1273C > T | p.Arg425X | 2 | 22 | MM | 1 | 7 | 3 | 4 |
| XP117BR | C | 5 | 5 | Caucasian | 8 | c.299+2delT | Splice | c.2429_2441del13 | p.Gly810fs | 0 | 4 | BCC | 0 | 0 | 1 | 0 |
| XP93BR | C | 6 | 1 | Pakistani | 1 | c.1243C > T | p.Arg415X | 0 | — | 0 | 2 | 0 | 0 | |||
| XP66TU | C | 6 | 3 | Caucasian | 20 | c.924_938del15 | p.Leu309_313del | c.1021G > T | p.Ala341Ser | 0 | 3 | SCC | 0 | 4 | 3 | 0 |
| XP112BR-S | C | 7 | 3 | Bangladeshi | ND | c.1808G > A | p.Trp603X | c.2420+2T > C | Splice | 0 | — | 0 | 0 | 2 | 0 | |
| XP102BR | C | 7 | 4 | Caucasian | 14 | c.1111delA | p.Thr371fs | deletion exon 1 | 0 | — | 0 | 0 | 3 | 0 | ||
| XP112BR | C | 9 | 7 | Bangladeshi | 9 | c.1808G > A | p.Trp603X | c.2420+2T > C | Splice | 0 | — | 0 | 0 | 2 | 0 | |
| XP4LE | C | 9 | 5 | Pakistani | 5 | c.2176_2192del17 | p.Glu726fs | 0 | 6 | BCC | 0 | 2 | 5 | 0 | ||
| XP73BR | C | 10 | 2 | Pakistani | 7 | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 6 | 1 | |||
| XP94BR | C | 10 | 6 | Sri Lankan | 11 | c.877C > T | p.Arg293X | 0 | — | 0 | 0 | 7 | 0 | |||
| XP82BR | C | 10 | 2 | Caucasian | 15 | c.395_398delATTG | p.Asp132fs | deletion XPC exon 14–15 | 0 | 6 | SCC | 0 | 3 | 2 | 0 | |
| XP76BR | C | 11 | 3 | Pakistani | 10 | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 4 | 0 | |||
| XP78BR | C | 12 | 5 | Pakistani | 28 | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 5 | 0 | |||
| XP3LE | C | 13 | 6 | Pakistani | 15 | c.1243C > T | p.Arg415X | 0 | 11 | BCC | 0 | 1 | 3 | 0 | ||
| XP77BR | C | 12 | 4 | Pakistani | 10 | c.1243C > T | p.Arg415X | 0 | 8 | BCC | 1 | 0 | 5 | 0 | ||
| XP58BR | C | 15 | 4 | Pakistani | ND | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 4 | 0 | |||
| XP83BR | C | 16 | 9 | Pakistani | 21 | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 7 | 0 | |||
| XP62BR | C | 17 | 7 | Pakistani | 6 | c.1243C > T | p.Arg415X | 0 | — | 0 | 0 | 4 | 0 | |||
| XP39BR | C | 17 | 2 | Bangladeshi | 12 | c.2176_2192del17 | p.Glu726fs | 0 | — | 0 | 0 | 5 | 0 | |||
| XP35BR | C | 19 | 4 | Bangladeshi | 13 | c.2176_2192del17 | p.Glu726fs | 0 | — | 0 | 0 | 6 | 0 | |||
| XP28BR | C | 21 | 4 | Bangladeshi | 12 | c.2176_2192del17 | p.Glu726fs | 0 | 8 | BCC | 0 | 8 | 9 | 0 | ||
| XP51BR | C | 23 | 11 | Middle Eastern | 1 | c.2251–1G > C | 0 | 12 | BCC | 0 | 1 | 5 | 0 | |||
| XP6B1 | C | 23 | 5 | Pakistani | 13 | c.1243C > T | p.Arg415X | 0 | 22 | BCC | 0 | 5 | 8 | 0 | ||
| XP1SH | C | 27 | 23 | Caucasian | 6 | c.445_446delGA | p.Glu149fs | c.2336delT | p.Leu779fs | 0 | 3 | BCC | 0 | 5 | 8 | 0 |
| XP22BR | C | 38 | 19 | Middle Eastern | 13 | c.658C > T | p.Arg220X | 0 | 11 | BCC | 0 | 7 | 7 | 0 | ||
| XP21BR | C | Died39 | 6 | Middle Eastern | 15 | c.658C > T | p.Arg220X | 0 | 31 | BCC | 1 | 6 | 7 | 0 | ||
| XP95BR | C | 26 | 20 | Caucasian | 27 | c.2033+5G > A | 0 | 20 | MM | 9 | 0 | 0 | 0 | |||
| XP107BR | C | 37 | 34 | Caucasian | 41 | c.1754A > G | p.Tyr585Cys | 0 | 28 | MIS | 4 | 0 | 1 | 0 | ||
| XP29BR | C | 62 | 46 | Asian | 33 | c.2033+5G > A | 0 | 57 | BCC | 3 | 1 | 2 | 1 | |||
*
UDS is measured, after a UVC dose of 10 J⋅m−2, as percent of that in normal cells used as control in the same experiment. BCC, basal cell carcinoma; MIS, melanoma in situ; MM, malignant melanoma; ND, not done; NMSC, nonmelanoma skin cancer; SCC, squamous cell carcinoma; SSS, sunburn severity score (5). Note that the mutation data for the XP-A patients has been presented in ref. 16 and much of the sunburn data have been presented in ref. 5. These data are reproduced here for completeness.
†
Where no second allele is indicated, the mutation is homozygous.
‡
In these two cases, audiometry and neuro-ophthalmological data were not possible to obtain due to severity of cognitive impairment in each patient, so maximum score from measured parameters is only 5.