Figure 1

Mutation screening of SMS324 for RAI1 and FLCN. A. Photograph of SMS324 at 18y, exhibiting features characteristic of SMS. B. DNA chromatograph of the normal allele and the c.3103delC change identified, resulting in a frameshift in the mutant allele. This mutation is located within a heptameric C-tract (red C’s in the normal allele). C. Representation of the gene structure of FLCN transcript variant 1(top) and transcript variant 2 (bottom). Non-coding exons are blue while coding exons are red. The FLCN polymorphism identified in this patient is localized with arrows in both transcript variants and is numbered accordingly.