Table I.

Clinical features and XPD mutations of patients studied

       XPD mutations  
       allele1 allele2 allele2 allele2  
Family Patient Age/sex Living/dead Acute sun sensitivitya Skin cancer Progressive neurological abnormalities R683W Q452X I455del 199insPP References 
1 XP29BE 37 yr/M dead +b +cd +b + +   Kraemer et al.,1988,e; Wang et al., 2009; this study 
2 AS552 39 yr/Mf dead + +c + +  +  This study 
2 AS553 35 yr/Mf dead + +c + +  +  This study 
3 XP34BE 31 yr/Mg alive + 0 normal +   + Boyle et al., 2008  
3 XP35BE 27 yr/Mg alive + 0 normal +   + Boyle et al., 2008  
       XPD mutations  
       allele1 allele2 allele2 allele2  
Family Patient Age/sex Living/dead Acute sun sensitivitya Skin cancer Progressive neurological abnormalities R683W Q452X I455del 199insPP References 
1 XP29BE 37 yr/M dead +b +cd +b + +   Kraemer et al.,1988,e; Wang et al., 2009; this study 
2 AS552 39 yr/Mf dead + +c + +  +  This study 
2 AS553 35 yr/Mf dead + +c + +  +  This study 
3 XP34BE 31 yr/Mg alive + 0 normal +   + Boyle et al., 2008  
3 XP35BE 27 yr/Mg alive + 0 normal +   + Boyle et al., 2008  
a

Skin burning on minimal sun exposure.

b

Present.

c

Including at least one melanoma.

d

>300 documented skin cancers, including 24 melanomas, 284 basal cell carcinomas, and 12 squamous cell carcinomas.

e

XP29BE was patient 7 in this study.

f

Siblings.

g

Siblings.

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