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.,1988e; 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

^aSkin burning on minimal sun exposure.

^bPresent.

^cIncluding at least one melanoma.

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

^eXP29BE was patient 7 in this study.

^fSiblings.

^gSiblings.