Figure 2.

Molecular characterization of the patients by TGFBR1 and TGFBR2 sequencing on genomic DNA, obtained from whole peripheral blood. A) Sequence chromatogram of Patient 1, showing the position of the heterozygous c.1052A>G transition in TGFBR1 exon 6, leading to the p.Asp351Gly missense mutation, and chromatogram of Patient 2 showing the heterozygous c.1529T>G transversion in TGFBR2 exon 7, resulting in the p.Ile510Ser missense mutation. B) The p.Asp351Gly and p.Ile510Ser mutations substitute in LDS patients an aspartic acid and an isoleucine residues that are evolutionally conserved in TGFBR1 and TGFBR2 orthologues, respectively. Multiple sequence alignment was performed using CLUSTALW and PolyPhen.