Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

Figure 1

(a) Pedigrees and haplotype analysis for the XP45GB, XP16KEB, and XP28SFA patients. The disease haplotype is indicated by shading. m, mutant allele; N, normal allele; ND, not determined. (b) Clinical photographs of investigated XP-C patients showing clinical variability despite genetic homogeneity. (*) Dermoscopic examination of XP28SFA patient showing polymorphic pigmented and achromic macula. (c) Genomic DNA sequence showing the G to T substitution in the exon 7 of the XPC gene in homozygous state (1) or in a heterozygous parent (2) which is compared to the wild-type sequence of a control (3).