Figure 2. Sequencing plots of TGFBR2. A novel heterozygous missense mutation of TGFBR2 (c.1358T>A, p.V453E) affecting an evolutionarily conserved amino acid was detected in the proband (III: 2), her mother (II: 1) and uncle (II: 2). The mutation was absent in other family members (III: 1, III: 3, II: 3) and the controls.