Figure 3. Schematic representation of LTBP2 genetic analysis. A: A diagrammatic representation of the LTBP2 gene structure is shown. Partial exon numbers are displayed in the scheme. Variants in previous reports are depicted in black (except for the intronic variants in blue), and the novel variants identified in this study are in red. B: The position of LTBP2 mutations identified in the study and in previous reports along the protein structure. The novel mutations detected in our study are characterized in red. The domains in the protein are also portrayed. SP: Signal peptide; TB: Transforming growth factor beta binding protein-like motif; EGF-like: Epidermal growth factor-like domains; and EGF-CA: Epidermal growth factor-like domains with calcium binding motifs. C: Sanger sequencing in four families of probands carrying novel LTBP2 mutations. Black arrows indicate the mutation loci.