FIG. 2.

The gene structure of FBN1 at the 3′ end and clustering of the reported de novo variants in and around exon 65 in patients with progeroid fibrillinopathy. Boxes denote exons and the lines between the two boxes denote introns. Shaded area denotes untranslated region of the exon. The c.8155_8156delAA mutation was previously reported by Graul-Neumann et al. [2010], c. 8156_8175del mutation by Goldblatt et al. [2011], c.8226+1G>T mutation by Horn and Robinson [2011], and c.8175_8182del mutation by Takenouchi et al. [2013]. The total number of exons in the FBN1 transcript is 66 and the first exon is noncoding.